Genetic advances in craniosynostosis

American Journal of Medical Genetics, Part A

Volumn 173, Issue 5, 2017, Pages 1406-1429

  Lattanzi, Wanda ^a,b   Barba, Marta ^a   Di Pietro, Lorena ^a   Boyadjiev, Simeon A ^c  

^a CATHOLIC UNIVERSITY   (Italy)

^b The Latium Musculoskeletal Tissue Bank   (Italy)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

craniofacial; craniosynostosis; gene mutations; malformation; skull sutures

Indexed keywords

BONE MORPHOGENETIC PROTEIN; CYTOKINE; EPHRIN; FIBROBLAST GROWTH FACTOR; HOMEODOMAIN PROTEIN; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR RUNX2; TRANSFORMING GROWTH FACTOR BETA; TWIST RELATED PROTEIN 1;

ARTICLE; CHROMOSOME ABERRATION; CRANIAL SINUS; CRANIAL SUTURE; CRANIECTOMY; CRANIOFACIAL SYNOSTOSIS; CRANIOPLASTY; ENVIRONMENTAL FACTOR; EPHRIN GENE; GENE; GENE LOCUS; GENE MUTATION; HEREDITY; HOMEOBOX; HUMAN; INHERITANCE; MOLECULAR GENETICS; NERVE CELL DIFFERENTIATION; NEUROIMAGING; NONHUMAN; NONSYNDROMIC CRANIOSYNOSTOSIS; PATHOGENESIS; PROTEIN BLOOD LEVEL; RUNX2 GENE; SIGNAL TRANSDUCTION; SKULL DEVELOPMENT; THREE DIMENSIONAL IMAGING; TWIST1 GENE; ULTRASOUND; WNT SIGNALING PATHWAY; CONGENITAL DISORDER; GENETICS; HETEROTOPIC OSSIFICATION; PATHOPHYSIOLOGY; PHENOTYPE;

CONGENITAL ABNORMALITIES; CRANIAL SUTURES; CRANIOSYNOSTOSES; HUMANS; OSSIFICATION, HETEROTOPIC; PHENOTYPE;

EID: 85011966171     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38159     Document Type: Article

References (299)

1. Abbott, M. M., Rogers, G. F., Proctor, M. R., Busa, K., & Meara, J. G. (2012). Cost of treating sagittal synostosis in the first year of life. Journal of Craniofacial Surgery, 23(1), 88–93.
2. Agrawal, D., Steinbok, P., & Cochrane, D. D. (2005). Diagnosis of isolated sagittal synostosis: Are radiographic studies necessary? Childs Nervous System, 22(4), 375–378.
3. Alderman, B. W., Lammer, E. J., Joshua, S. C., Cordero, J. F., Ouimette, D. R., Wilson, M. J., & Ferguson, S. W. (1988). An epidemiologic study of craniosynostosis: Risk indicators for the occurrence of craniosynostosis in Colorado. American Journal of Epidemiology, 128(2), 431–438.
4. Aldridge, K., Kane, A. A., Marsh, J. L., Panchal, J., Boyadjiev, S. A., Yan, P., … Richtsmeier, J. T. (2005). Brain morphology in nonsyndromic unicoronal craniosynostosis. The Anatomical Record Part A Discoveries in Molecular Cellular and Evolutionary Biology, 285(2), 690–698.
5. Aldridge, K., Marsh, J. L., Govier, D., & Richtsmeier, J. T. (2002). Central nervous system phenotypes in craniosynostosis. Journal of Anatomy, 201(1), 31–39.
6. Al-Hertani, W., Hastings, V. A., McGowan-Jordan, J., Hurteau, J., & Graham, G. E. (2013). Severe craniosynostosis in an infant with deletion 22q11.2 syndrome. American Journal of Medical Genetics Part A, 161A(1), 153–157.
7. Al-Rekabi, Z., Wheeler, M. M., Leonard, A., Fura, A. M., Juhlin, I., Frazar, C., … Sniadecki, N. J. (2016). Activation of the IGF1 pathway mediates changes in cellular contractility and motility in single-suture craniosynostosis. Journal of Cell Science, 129(3), 483–491.
8. Altarac, M., & Saroha, E. (2007). Lifetime prevalence of learning disability among US children. Pediatrics, 119(Suppl 1), S77–S83.
9. Alwan, S., Reefhuis, J., Rasmussen, S. A., Olney, R. S., Friedman, J. M., & National Birth Defects Prevention Study. (2007). Use of selective serotonin-reuptake inhibitors in pregnancy and the risk of birth defects. The New England Journal of Medicine, 356(26), 2684–2692.
10. Ardalan, M., Rafati, A., Nejat, F., Farazmand, B., Majed, M., & El Khashab, M. (2012). Risk factors associated with craniosynostosis: A case control study. Pediatric Neurosurgery, 48(3), 152–156.
11. Arts, H. H., Bongers, E. M., Mans, D. A., van Beersum, S. E., Oud, M. M., Bolat, E., … Roepman, R. (2011). C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. Journal of Medical Genetics, 48(6), 390–395.
12. Aruga, J., Kamiya, A., Takahashi, H., Fujimi, T. J., Shimizu, Y., Ohkawa, K., … Toyoda, A. (2006). A wide-range phylogenetic analysis of Zic proteins: Implications for correlations between protein structure conservation and body plan complexity. Genomics, 87(6), 783–792.
13. Attanasio, C., Nord, A. S., Zhu, Y., Blow, M. J., Li, Z., Liberton, D. K., … Visel, A. (2013). Fine tuning of craniofacial morphology by distant-acting enhancers. Science, 342(6157), 1241006.
14. Aypar, E., Yildirim, M. S., Sert, A., Ciftci, I., & Odabas, D. (2011). A girl with metopic synostosis and trisomy 13 mosaicism: Case report and review of the literature. American Journal of Medical Genetics Part A, 155A(3), 638–641.
15. Azimi, C., Kennedy, S. J., Chitayat, D., Chakraborty, P., Clarke, J. T., Forrest, C., & Teebi, A. S. American Journal of Medical Genetics Part A, 117A(2), 127–135.
16. Badve, C. A., K, M. M., Iyer, R. S., Ishak, G. E., & Khanna, P. C. (2013). Craniosynostosis: Imaging review and primer on computed tomography. Pediatric Radiology, 43(6), 728–742.
17. Beckett, J. S., Brooks, E. D., Lacadie, C., Vander Wyk, B., Jou, R. J., Steinbacher, D. M., … Persing, J. A. (2014). Altered brain connectivity in sagittal craniosynostosis. Journal of Medical Genetics, 13(6), 690–698.
18. Benedyk, M. J., Mullen, J. R., & DiNardo, S. (1994). Odd-paired: A zinc finger pair-rule protein required for the timely activation of engrailed and wingless in Drosophila embryos. Genes & Development, 8(1), 105–117.
19. Bermejo, E., Félix, V., Lapunzina, P., Galán, E., Soler, V., Delicado, A., … Martínez-Frías, M. L. (2005). Craniofacial dyssynostosis: Description of the first four Spanish cases and review. American Journal of Medical Genetics Part A, 132A(1), 41–48.
20. Bessenyei, B., Nagy, A., Szakszon, K., Mokánszki, A., Balogh, E., Ujfalusi, A., … Oláh, (2015). Clinical and genetic characteristics of craniosynostosis in Hungary. American Journal of Medical Genetics Part A, 167A(12), 2985–2991.
21. Bifari, F., Berton, V., Pino, A., Kusalo, M., Malpeli, G., Di Chio, M., … Decimo, I. (2015). Meninges harbor cells expressing neural precursor markers during development and adulthood. Frontiers in Cellular Neuroscience, 9, 383.
22. Bitgood, M. J., & McMahon, A. P. (1995). Hedgehog and Bmp genes are coexpressed at many diverse sites of cell-cell interaction in the mouse embryo. Developmental Biology, 172(1), 126–138.
23. Blaser, S. I. (2008). Abnormal skull shape. Pediatric Radiology, 38(Suppl 3), S488–S496.
24. Bodo, M., Carinci, F., Baroni, T., Giammarioli, M., Bellucci, C., Bosi, G., … Carinci, P. (1997). Apert's syndrome: Differential in vitro production of matrix macromolecules and its regulation by interleukins. European Journal of Clinical Investigation, 27(1), 36–42.
25. Boulet, S. L., Rasmussen, S. A., & Honein, M. A. (2008). A population-based study of craniosynostosis in metropolitan Atlanta, 1989–2003. American Journal of Medical Genetics Part A, 146A(8), 984–991.
26. Boyadjiev, S. A. & International Craniosynostosis Consortium. (2007). Genetic analysis of nonsyndromic craniosynostosis. Orthodontics & Craniofacial Research, 10(3), 129–137.
27. Boyadjiev, S. A., Zhang, G., Ingersoll, R., Isaac, N., Kasch, L., Hur, D., … Scott, A. F. (2002). Analysis of candidate genes for nonsyndromic craniosynostosis. The American Journal of Human Genetics, 71, A1795.
28. Boyadjiev SA. 2014. Congenital craniofacial abnormalities. Merck Manual 2105. Available from: http://www.merckmanuals.com/professional/pediatrics/congenital-craniofacial-and-musculoskeletal-abnormalities/congenital-craniofacial-abnormalities
29. Carmichael, S. L., Ma, C., Rasmussen, S. A., Honein, M. A., & Lammer, E. J. Craniosynostosis and maternal smoking. Birth Defects Research Part A: Clinical and Molecular Teratology, 82(2), 78–85.
30. Chang, R., Petersen, J. R., Niswander, L. A., & Liu, A. (2015). A hypomorphic allele reveals an important role of inturned in mouse skeletal development. Developmental Dynamics, 244(6), 736–747.
31. Chieffo, D., Tamburrini, G., Massimi, L., Di Giovanni, S., Giansanti, C., Caldarelli, M., & Di Rocco, C. (2010). Long-term neuropsychological development in single-suture craniosynostosis treated early. Journal of Medical Genetics, 5(3), 232–237.
32. Chotai, K. A., Brueton, L. A., van Herwerden, L., Garrett, C., Hinkel, G. K., Schinzel, A., … Winter, R. M. (1994). Six cases of 7p deletion: Clinical, cytogenetic, and molecular studies. American Journal of Medical Genetics, 51(3), 270–276.
33. Choucair, N., Mignon-Ravix, C., Cacciagli, P., Abou Ghou, J., Fawaz, A., Mégarbané, A., … Chouery, E. (2015). Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability. Molecular Cytogenetics, 8, 39.
34. Clendenning, D. E., & Mortlock, D. P. (2012). The BMP ligand Gdf6 prevents differentiation of coronal suture mesenchyme in early cranial development. PLoS ONE, 7(5), e36789.
35. Cohen, M. M. Jr, (2006). The new bone biology: Pathologic, molecular, and clinical correlates. American Journal of Medical Genetics Part A, 140A(23), 2646–2706.
36. Cohen, M. M. (2000). Craniosynostosis: Diagnosis, Evaluation, and Management. New York: Oxford University Press.
37. Connerney, J., Andreeva, V., Leshem, Y., Muentener, C., Mercado, M. A., & Spicer, D. B. (2006). Twist1 dimer selection regulates cranial suture patterning and fusion. Developmental Dynamics, 235(5), 1345–1357.
38. Cooper, G. M., Usas, A., Olshanski, A., Mooney, M. P., Losee, J. E., & Huard, J. (2009). Ex vivo Noggin gene therapy inhibits bone formation in a mouse model of postoperative resynostosis. Plastic and Reconstructive Surgery, 123(2 Suppl), 94S–103S.
39. Couly, G. F., Coltey, P. M., & Le Douarin, N. M. (1992). The developmental fate of the cephalic mesoderm in quail-chick chimeras. Development, 114(1), 1–15.
40. Couly, G. F., Coltey, P. M., & Le Douarin, N. M. (1993). The triple origin of skull in higher vertebrates: A study in quail-chick chimeras. Development, 117(2), 409–429.
41. Cunningham, M. L., Horst, J. A., Rieder, M. J., Hing, A. V., Stanaway, I. B., Park, S. S., Samudrala, R., & Speltz, M. L. (2011). IGF1R variants associated with isolated single suture craniosynostosis. American Journal of Medical Genetics Part A, 91–97.
42. Dathe, K., Kjaer, K. W., Brehm, A., Meinecke, P., Nürnberg, P., Neto, J. C., … Mundlos, S. (2009). Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. The American Journal of Human Genetics, 84(4), 483–492.
43. De Marco, P., Raso, A., Beri, S., Gimelli, S., Merello, E., Mascelli, S., … Gimelli, G. (2011). A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc. European Journal of Medical Genetics, 54(5), e478–e483.
44. De Silva, D., Duffty, P., Booth, P., Auchterlonie, I., Morrison, N., & Dean, J. C. (1995). Family studies in chromosome 22q11 deletion: Further demonstration of phenotypic heterogeneity. Clinical Dysmorphology, 4(4), 294–303.
45. Dean, J. C., De Silva, D. C., & Reardon, W. (1998). Craniosynostosis and chromosome 22q11 deletion. Journal of Medical Genetics, 35(4), 346; author reply 347.
46. Deckelbaum, R. A., Holmes, G., Zhao, Z., Tong, C., Basilico, C., & Loomis, C. A. (2012). Regulation of cranial morphogenesis and cell fate at the neural crest-mesoderm boundary by engrailed 1. Development, 139(7), 1346–1358.
47. Deckelbaum, R. A., Majithia, A., Booker, T., Henderson, J. E., & Loomis, C. A. (2006). The homeoprotein engrailed 1 has pleiotropic functions in calvarial intramembranous bone formation and remodeling. Development, 133(1), 63–74.
48. Dee, C. T., Szymoniuk, C. R., Mills, P. E., & Takahashi, T. (2013). Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia. Human Molecular Genetics, 22(2), 239–251.
49. Desai, J., Shannon, M. E., Johnson, M. D., Ruff, D. W., Hughes, L. A., Kerley, M. K., … Culiat, C. T. (2006). Nell1-deficient mice have reduced expression of extracellular matrix proteins causing cranial and vertebral defects. Human Molecular Genetics, 15(8), 1329–1341.
50. Di Rocco F., Arnaud E., Meyer P., Sainte-Rose C., & Renier D. 2009. Focus session on the changing "epidemiology" of craniosynostosis (comparing two quinquennia: 1985–1989 and 2003–2007) and its impact on the daily clinical practice: A review from Necker Enfants Malades. Childs Nervous System 25(7): 807–811.
51. Di Rocco, F., Arnaud, E., & Renier, D. 2009. Evolution in the frequency of nonsyndromic craniosynostosis. Neurosurg Pediatrics 4(1), 21–25.
52. Di Rocco, F., Baujat, G., Arnaud, E., Rénier, D., Laplanche, J. L., Daire, V. C., & Collet, C. (2014). Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations. European Journal of Human Genetics, 22(12), 1413–1416.
53. Di Rocco, F., Benoit, A., Vigneron, J., Segura, P. B., Klein, O., Collet, C., & Arnaud, E. (2015). Y-craniosynostosis by premature fusion of the metopic and coronal sutures: A new nosological entity or a variety of Saethre-Chotzen syndrome? Birth Defects Research Part A: Clinical and Molecular Teratology, 103(4), 306–310.
54. Dolk, H., Loane, M., & Garne, E. (2010). The prevalence of congenital anomalies in Europe. Advances in Experimental Medicine and Biology, 686, 349–364.
55. Doyle, A. J., Doyle, J. J., Bessling, S. L., Maragh, S., Lindsay, M. E., Schepers, D., … Dietz, H. C. (2012). Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nature Genetics, 44(11), 1249–1254.
56. Eckel, L., Patton, A., Yu, L., Keating, G. F., & Wetjen, N. M. (2013). Radiation dose reduction and protocol optimization for pediatric head CT in evaluation of craniosynostosis. Presented at the 50 th Annual Meeting of the European Society of Paediatric Radiology, June 3–7, Budapest. Hungary Pediatric Radiology, 43(Suppl 3), S475–S656.
57. el Ghouzzi, V., Le Merrer, M., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., … Bonaventure, J. Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nature Genetics, 15(1), 42–46.
58. Eswarakumar, V. P., Ozcan, F., Lew, E. D., Bae, J. H., Tomé, F., Booth, C. J., … Schlessinger, J. (2006). Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis. Proceedings of the National Academy of Sciences of the United States of America, 103(49), 18603–18608.
59. Fennell, N., Foulds, N., Johnson, D. S., Wilson, L. C., Wyatt, M., Robertson, S. P., … Wilkie, A. O. (2015). Association of mutations in FLNA with craniosynostosis. European Journal of Human Genetics, 23(12), 1684–1686.
60. Florisson, J. M., Verkerk, A. J., Huigh, D., Hoogeboom, A. J., Swagemakers, S., Kremer, A., … van der Spek, P. J. (2013). Boston type craniosynostosis: Report of a second mutation in MSX2. American Journal of Medical Genetics Part A, 161A(10), 2626–2633.
61. Flück, C. E., Tajima, T., Pandey, A. V., Arlt, W., Okuhara, K., Verge, C. F., … Miller, W. L. (2004). Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nature Genetics, 36(3), 228–230.
62. Foley, P., McAuliffe, F., Mullarkey, M., & Reardon, W. (2007). Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome). Clinical Dysmorphology, 16(3), 177–179.
63. Fondon, J. W., & Garner, H. R. (2004). Molecular origins of rapid and continuous morphological evolution. Proceedings of the National Academy of Sciences of the United States of America, 101(52), 18058–18063.
64. Foster, K. A., Frim, D. M., & McKinnon, M. (2008). Recurrence of synostosis following surgical repair of craniosynostosis. Plastic and Reconstructive Surgery, 121(3), 70e–76e.
65. Fryburg, J. S., Hwang, V., & Lin, K. Y. (1995). Recurrent lambdoid synostosis within two families. American Journal of Medical Genetics, 58(3), 262–266.
66. Fryssira, H., Makrythanasis, P., Kattamis, A., Stokidis, K., Menten, B., Kosaki, K., … Kanavakis, E. (2011). Severe developmental delay in a patient with 7p21.1-p14.3 microdeletion spanning the TWIST gene and the HOXA gene cluster. Molecular Syndromology, 2(1), 45–49.
67. Gajecka, M., Yu, W., Ballif, B. C., Glotzbach, C. D., Bailey, K. A., Shaw, C. A., … Shaffer, L. G. (2005). Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure. European Journal of Human Genetics, 13(2), 139–149.
68. Garcez, R. C., Le Douarin, N. M., & Creuzet, S. E. (2014). Combinatorial activity of Six1-2-4 genes in cephalic neural crest cells controls craniofacial and brain development. Cellular and Molecular Life Sciences, 71(11), 2149–2164.
69. Garcia-Heras, J., Corley, N., Garcia, M. F., Kukolich, M. K., Smith, K. G., & Day, D. W. (1999). De novo partial duplications 1p: Report of two new cases and review. American Journal of Medical Genetics, 82(3), 261–264.
70. Gill, S. K., Broussard, C., Devine, O., Green, R. F., Rasmussen, S. A., Reefhuis, J., & National Birth Defects Prevention Study. (2012). Association between maternal age and birth defects of unknown etiology: United States, 19972007. Birth Defects Research Part A: Clinical and Molecular Teratology, 94(12), 1010–1008.
71. Gorlin, R. J., Cohen, M. M., & Hennekam, R. C. M. (2001). Syndromes of the Head and Neck, (4th ed.). New York: Oxford University Press Inc.
72. Greene, A. K., Mulliken, J. B., Proctor, M. R., Meara, J. G., & Rogers, G. F. (2008). Phenotypically unusual combined craniosynostoses: Presentation and management. Plastic and Reconstructive Surgery, 122(3), 853–862.
73. Greenwood, J., Flodman, P., Osann, K., Boyadjiev, S. A., & Kimonis, V. (2014). Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis. Genetics in Medicine, 16(4), 302–310.
74. Greives, M. R., Odessey, E. A., Waggoner, D. J., Shenaq, D. S., Aradhya, S., Mitchell, A., … Reid, R. R. (2013). RUNX2 quadruplication: Additional evidence toward a new form of syndromic craniosynostosis. Journal of Craniofacial Surgery, 24(1), 126–129.
75. Grillo, L., Greco, D., Pettinato, R., Avola, E., Potenza, N., Castiglia, L., … Fichera, M. (2014). Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis. Gene, 534(2), 435–439.
76. Gripp, K. W., Stolle, C. A., Celle, L., McDonald-McGinn, D. M., Whitaker, L. A., & Zackai, E. H. (1999). TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome. American Journal of Medical Genetics, 82(2), 170–176.
77. Gupta, P. C., Foster, J., Crowe, S., Papay, F. A., Luciano, M., & Traboulsi, E. I. (2003). Ophthalmologic findings in patients with nonsyndromic plagiocephaly. Journal of Craniofacial Surgery, 14(4), 529–532.
78. Hall, J. G., Allanson, J., Gripp, K., & Slavotinek, A. (2013). Handbook of Physical Measurements. (3rd ed). New York: Oxford University Press.
79. Han, J., Ishii, M., Bringas, P., Jr, Maas, R. L., Maxson, R. E., Jr, & Chai, Y. (2007). Concerted action of Msx1 and Msx2 in regulating cranial neural crest cell differentiation during frontal bone development. Mechanisms of Development, 124(9-10), 729–745.
80. Hanai, J., Chen, L. F., Kanno, T., Ohtani-Fujita, N., Kim, W. Y., Guo, W. H., … Ito, Y. (1999). Interaction and functional cooperation of PEBP2/CBF with Smads. Synergistic induction of the immunoglobulin germline Calpha promoter. Journal of Biological Chemistry, 274(44), 31577–31582.
81. Heilstedt, H. A., Shapira, S. K., Gregg, A. R., & Shaffer, L. G. (1999). Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis. Clinical Genetics, 56(2), 123–128.
82. Heuzé, Y., Holmes, G., Peter, I., Richtsmeier, J. T., & Jabs, E. W. 2014. Closing the gap: genetic and genomic continuum from syndromic to nonsyndromic craniosynostoses. Current Genetic Medicine Reports, 2(3), 135–145.
83. Higashino, T., & Hirabayashi, S. (2013). A secondary craniosynostosis associated with juvenile hyperthyroidism. Journal of Plastic, Reconstructive & Aesthetic Surgery, 66(10), e284–e286.
84. Hing, A. V., Click, E. S., Holder, U., Seto, M. L., Vessey, K., Gruss, J., … Cunningham, M. L. (2009). Bilateral lambdoid and sagittal synostosis (BLSS): A unique craniosynostosis syndrome or predictable craniofacial phenotype? American Journal of Medical Genetics Part A, 149A(5), 1024–1032.
85. Hornik, C., Brand-Saberi, B., Rudloff, S., Christ, B., & Füchtbauer, E. M. (2004). Twist is an integrator of SHH, FGF, and BMP signaling. Anatomy and Embryology (Berl), 209(1), 31–39.
86. Howard, T. D., Paznekas, W. A., Green, E. D., Chiang, L. C., Ma, N., Ortiz de Luna, R. I., … Jabs, E. W. (1997). Nature Genetics, 15(1), 36–41.
87. Huang, N., Pandey, A. V., Agrawal, V., Reardon, W., Lapunzina, P. D., Mowat, D., … Miller, W. L. (2005). Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. The American Journal of Human Genetics, 76(5), 729–749.
88. Hufnagel, R. B., Zimmerman, S. L., Krueger, L. A., Bender, P. L., Ahmed, Z. M., & Saal, H. M. (2016). A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene. American Journal of Medical Genetics Part A, 170A(2), 487–491.
89. Hurley, M. E., White, M. J., Green, A. J., & Kelleher, J. (2004). Antley-Bixler syndrome with radioulnar synostosis. Pediatric Radiology, 34(2), 148–151.
90. Inagaki, T., Kyutoku, S., Seno, T., Kawaguchi, T., Yamahara, T., Oshige, H., … Kawamoto, K. (2007). The intracranial pressure of the patients with mild form of craniosynostosis. Childs Nervous System, 23(12), 1455–1459.
91. Ishii, M., Merrill, A. E., Chan, Y. S., Gitelman, I., Rice, D. P., Sucov, H. M., & Maxson, R. E., Jr. (2003). Msx2 and Twist cooperatively control the development of the neural crest-derived skeletogenic mesenchyme of the murine skull vault. Development, 130(24), 6131–6142.
92. Iwasaki, M., Le, A. X., & Helms, J. A. (1997). Expression of indian hedgehog, bone morphogenetic protein 6 and gli during skeletal morphogenesis. Mechanisms of Development, 69(1–2), 197–202.
93. Jabs, E. W., Li, X., Scott, A. F., Meyers, G., Chen, W., Eccles, M., … Jaye, M. (1994). Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nature Genetics, 8(3), 275–279.
94. Jabs, E. W., Müller, U., Li, X., Ma, L., Luo, W., Haworth, I. S., … Maxson, R. (1993). A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell, 75, 443–450.
95. Jabs, E. W. (1998). Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates. Clinical Genetics, 53(2), 79–86.
96. James, A. W., Levi, B., Xu, Y., Carre, A. L., & Longaker, M. T. (2010). Retinoic acid enhances osteogenesis in cranial suture-derived mesenchymal cells: Potential mechanisms of retinoid-induced craniosynostosis. Plastic and Reconstructive Surgery, 125(5), 1352–1361.
97. Janssen, A., Hosen, M. J., Jeannin, P., Coucke, P. J., De Paepe, A., & Vanakker, O. M. (2013). Second family with the Boston-type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum. American Journal of Medical Genetics Part A, 161A(9), 2352–2357.
98. Jehee, F. S., Bertola, D. R., Yelavarthi, K. K., Krepischi-Santos, A. C., Kim, C., Vianna-Morgante, A. M., … Passos-Bueno, M. R. (2007). An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses. American Journal of Medical Genetics Part A, 143A(16), 1912–1918.
99. Jehee, F. S., Johnson, D., Alonso, L. G., Cavalcanti, D. P., de Sá Moreira, E., Moreira, E., … Passos-Bueno, M. R. (2005). Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clinical Genetics, 67(6), 503–510.
100. Jehee, F. S., Krepischi-Santos, A. C., Rocha, K. M., Cavalcanti, D. P., Kim, C. A., Bertola, D. R., … Passos-Bueno, M. R. (2008). High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation. Journal of Medical Genetics, 45(7), 447–450.
101. Jenkins, D., Seelow, D., Jehee, F. S., Perlyn, C. A., Alonso, L. G., Bueno, D. F., … Wilkie, A. O. (2007). RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. The American Journal of Human Genetics, 80(6), 1162–1670.
102. Jeradi, S., & Hammerschmidt, M. (2016). Retinoic acid-induced premature osteoblast-to-preosteocyte transitioning has multiple effects on calvarial development. Development, 143(7), 1205–1216.
103. Jiang, X., Iseki, S., Maxson, R. E., Sucov, H. M., & Morriss-Kay, G. M. (2002). Tissue origins and interactions in the mammalian skull vault. Developmental Biology, 241(1), 106–116.
104. Jimenez, D. F., & Barone, C. M. (1998). Endoscopic craniectomy for early surgical correction of sagittal craniosynostosis. Journal of Neurosurgery, 88(1), 77–81.
105. Jimenez, D. F., & Barone, C. M. (2010). Multiple-suture nonsyndromic craniosynostosis: Early and effective management using endoscopic techniques. Journal of Medical Genetics, 5(3), 223–231.
106. Johnson, D., Wall, S. A., Mann, S., & Wilkie, A. O. (2000). A novel mutation, Ala315Ser, in FGFR2: A gene-environment interaction leading to craniosynostosis? European Journal of Human Genetics, 8(8), 571–577.
107. Johnson, D., & Wilkie, A. O. (2011). Craniosynostosis. European Journal of Human Genetics, 19(4), 369–376.
108. Justice, C. M. (2014). Non-coding variant in the BMP2 locus that is associated with sagittal nonsyndromic craniosynostosis causes differential GFP expression in zebrafish. Presented at the 64th Annual Meeting of The American Society of Human Genetics meeting, October 18–22, 2014, San Diego, CA.
109. Justice, C. M., Yagnik, G., Kim, Y., Peter, I., Jabs, E. W., Erazo, M., … Boyadjiev, S. A. (2012). A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within B BS9. Nature Genetics, 44(12), 1360–1364.
110. Kadlub, N., Persing, J. A., da Silva Freitas, R., & Shin, J. H. (2008). Familial lambdoid craniosynostosis between father and son. Journal of Craniofacial Surgery, 19(3), 850–854.
111. Kallen, K. (1999). Maternal smoking and craniosynostosis. Teratology, 60(3), 146–150.
112. Kapp-Simon, K. A., Speltz, M. L., Cunningham, M. L., Patel, P. K., & Tomita, T. (2007). Neurodevelopment of children with single suture craniosynostosis: A review. Childs Nervous System, 23(3), 269–281.
113. Kapp-Simon, K. A. (1994). Mental development in infants with nonsyndromic craniosynostosis with and without cranial release and reconstruction. Plastic and Reconstructive Surgery, 94(2), 408–410.
114. Kariminejad, A., Kariminejad, R., Tzschach, A., Ullmann, R., Ahmed, A., Asghari-Roodsari, A., … Kariminejad, M. H. (2009). Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis. American Journal of Medical Genetics Part A, 149A(7), 1544–1549.
115. Kawara, H., Yamamoto, T., Harada, N., Yoshiura, K., Niikawa, N., Nishimura, A., … Matsumoto, N. (2006). Narrowing candidate region for monosomy 9p syndrome to a 4.7 −Mb segment at 9p22.2-p23. American Journal of Medical Genetics Part A, 140(4), 373–377.
116. Kayserili, H., Uz, E., Niessen, C., Vargel, I., Alanay, Y., Tuncbilek, G., … Akarsu, N. A. (2009). ALX4 dysfunction disrupts craniofacial and epidermal development. Human Molecular Genetics, 18(22), 4357–4366.
117. Kelleher, M. O., Murray, D. J., McGillivary, A., Kamel, M. H., Allcutt, D., & Earley, M. J. (2006). Behavioral, developmental, and educational problems in children with nonsyndromic trigonocephaly. Journal of Neurosurgery, 105(5 Suppl), 382–384.
118. Khadka, D., Luo, T., & Sargent, T. D. (2006). Msx1 and Msx2 have shared essential functions in neural crest but may be dispensable in epidermis and axis formation in Xenopus. International Journal of Developmental Biology, 50(5), 499–502.
119. Khanna, P. C., Thapa, M. M., Iyer, R. S., & Prasad, S. S. (2011). Pictorial essay: The many faces of craniosynostosis. Indian Journal of Radiology and Imaging Impact, 21(1), 49–56.
120. Kim, H. J., Lee, M. H., Park, H. S., Park, M. H., Lee, S. W., Kim, S. Y., … Ryoo, H. M. (2003). Erk pathway and activator protein 1 play crucial roles in FGF2-stimulated premature cranial suture closure. Developmental Dynamics, 227(3), 335–346.
121. Kim, J., Won, H. H., Kim, Y., Choi, J. R., Yu, N., & Lee, K. A. (2015). Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement. Journal of Medical Genetics, 52(10), 706–709.
122. Kim, S. D., Yagnik, G., Cunningham, M. L., Kim, J., & Boyadjiev, S. A. (2014). MAPK/ERK signaling pathway analysis in primary osteoblasts from patients with nonsyndromic sagittal craniosynostosis. Cleft Palate-Craniofacial Journal, 51(1), 115–119.
123. Kimonis, V., Gold, J. A., Hoffman, T. L., Panchal, J., & Boyadjiev, S. A. (2007). Genetics of craniosynostosis. Seminars in Pediatric Neurology, 14(3), 150–161.
124. Kini, U., Hurst, J. A., Byren, J. C., Wall, S. A., Johnson, D., & Wilkie, A. O. (2010). Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit. American Journal of Medical Genetics Part A, 152A(6), 1383–1389.
125. Ko, J. M., Jeong, S. Y., Yang, J. A., Park, D. H., & Yoon, S. H. (2012). Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: Identification of three novel TWIST1 mutations. Plastic and Reconstructive Surgery, 129(5), 814e–821e.
126. Komatsu, Y., Yu, P. B., Kamiya, N., Pan, H., Fukuda, T., Scott, G. J., … Mishina, Y. (2013). Augmentation of Smad-dependent BMP signaling in neural crest cells causes craniosynostosis in mice. Journal of Bone and Mineral Research, 28(6), 1422–1433.
127. Komori, T., Yagi, H., Nomura, S., Yamaguchi, A., Sasaki, K., Deguchi, K., … Kishimoto, T. (1997). Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell, 89(5), 755–764.
128. Komotar, R. J., Zacharia, B. E., Ellis, J. A., Feldstein, N. A., & Anderson, R. C. (2006). Pitfalls for the pediatrician: Positional molding or craniosynostosis? Pediatric Annals, 35(5), 365–375.
129. Kosaki, R., Higuchi, M., Mitsui, N., Matsushima, K., Ohashi, H., & Kosaki, K. (2005). Deletion involving the TWIST locus and the HOXA cluster: A contiguous gene syndrome on 7p? Congenital Anomalies (Kyoto), 45(1), 35–38.
130. Kress, W., Petersen, B., Collmann, H., & Grimm, T. (2000). An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with nonsyndromic trigonocephaly. Cytogenetics and Cell Genetics, 91(1–4), 138–140.
131. Kress, W., Schropp, C., Lieb, G., Petersen, B., Büsse-Ratzka, M., Kunz, J., … Collmann, H. (2006). Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: Functional differentiation from Muenke coronal synostosis syndrome. European Journal of Human Genetics, 14(1), 39–48.
132. Krimmel, M., Will, B., Wolff, M., Kluba, S., Haas-Lude, K., Schaefer, J., … Reinert, S. (2012). Value of high-resolution ultrasound in the differential diagnosis of scaphocephaly and occipital plagiocephaly. International Journal of Oral and Maxillofacial Surgery, 41(7), 797–800.
133. Kuo, J. S., Patel, M., Gamse, J., Merzdorf, C., Liu, X., Apekin, V., & Sive, H. (1998). Opl: A zinc finger protein that regulates neural determination and patterning in Xenopus. Development, 125(15), 2867–2882.
134. Lajeunie, E., Barcik, U., Thorne, J. A., El Ghouzzi, V., Bourgeois, M., & Renier, D. (2001). Craniosynostosis and fetal exposure to sodium valproate. Journal of Neurosurgery, 95(5), 778–782.
135. Lajeunie, E., Crimmins, D. W., Arnaud, E., & Renier, D. (2005). Genetic considerations in nonsyndromic midline craniosynostoses: A study of twins and their families. Journal of Neurosurgery, 103(4 Suppl), 353–356.
136. Lajeunie, E., El Ghouzzi, V., Le Merrer, M., Munnich, A., Bonaventure, J., & Renier, D. (1999). Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. Journal of Medical Genetics, 36(1), 9–13.
137. Lajeunie, E., Le Merrer, M., Bonaïti-Pellie, C., Marchac, D., & Renier, D. (1995). Genetic study of nonsyndromic coronal craniosynostosis. American Journal of Medical Genetics, 55(4), 500–504.
138. Lajeunie, E., Le Merrer, M., Bonaïti-Pellie, C., Marchac, D., & Renier, D. (1996). Genetic study of scaphocephaly. American Journal of Medical Genetics, 62(3), 282–285.
139. Lakin, G. E., Sinkin, J. C., Chen, R., Koltz, P. F., & Girotto, J. A. (2012). Genetic and epigenetic influences of twins on the pathogenesis of craniosynostosis: A meta-analysis. Plastic and Reconstructive Surgery, 129(4), 945–954.
140. Lana-Elola E1 Rice, R., Grigoriadis, A. E., & Rice, D. P. (2007). Cell fate specification during calvarial bone and suture development. Developmental Biology, 311(2), 335–346.
141. Lattanzi, W., Barba, M., Novegno, F., Massimi, L., Tesori, V., Tamburrini, G., … Di Rocco, C. (2013). Lim mineralization protein is involved in the premature calvarial ossification in sporadic craniosynostoses. Bone, 52(1), 474–484.
142. Lattanzi, W., Bukvic, N., Barba, M., Tamburrini, G., Bernardini, C., Michetti, F., & Di Rocco, C. (2012). Genetic basis of single-suture synostoses: Genes, chromosomes and clinical implications. Childs Nervous System, 28(9), 1301–1310.
143. Lattanzi, W., Parolisi, R., Barba, M., & Bonfanti, L. (2015). Osteogenic and neurogenic stem cells in their own place: Unraveling differences and similarities between niches. Frontiers in Cellular Neuroscience, 9, 455.
144. Lattanzi, W. (2016). Molecular Genetics of Craniosynostosis. eLS. John Wiley & Sons, Ltd: Chichester. DOI: 10.1002/9780470015902.a0025186.
145. Laue, K., Pogoda, H. M., Daniel, P. B., van Haeringen, A., Alanay, Y., von Ameln, S., … Robertson, S. P. (2011). Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. The American Journal of Human Genetics, 89(5), 595–606.
146. Le Tanno, P., Poreau, B., Devillard, F., Vieville, G., Amblard, F., Jouk, P. S., … Coutton, C. (2014). Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability. American Journal of Medical Genetics Part A, 164A(6), 1530–1536.
147. Lee, S. W., Choi, K. Y., Cho, J. Y., Jung, S. H., Song, K. B., Park, E. K., … Ryoo, H. M. (2006). TGF-beta2 stimulates cranial suture closure through activation of the Erk-MAPK pathway. Journal of Cellular Biochemistry, 98(4), 981–991.
148. Lenton, K., James, A. W., Manu, A., Brugmann, S. A., Birker, D., Nelson, E. R., … Longaker, M. T. (2011). Indian hedgehog positively regulates calvarial ossification and modulates bone morphogenetic protein signaling. Genesis, 49(10), 784–796.
149. Leslie, E. J., Taub, M. A., Liu, H., Steinberg, K. M., Koboldt, D. C., Zhang, Q., … Murray, J. C. (2015). Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci. The American Journal of Human Genetics, 96(3), 397–411.
150. Li, J., Hu, C., Han, L., Liu, L., Jing, W., Tang, W., … Long, J. (2015). MiR-154-5p regulates osteogenic differentiation of adipose-derived mesenchymal stem cells under tensile stress through the Wnt/PCP pathway by targeting Wnt11. Bone, 78, 130–141.
151. Lisabeth, E. M., Falivelli, G., & Pasquale, E. B. (2013). Eph receptor signaling and ephrins. Cold Spring Harbor Perspectives in Biology, 5(9), pii: a009159. doi: 10.1101/cshperspect.a009159
152. Liu, B., Chen, S., Johnson, C., & Helms, J. A. (2014). A ciliopathy with hydrocephalus, isolated craniosynostosis, hypertelorism, and clefting caused by deletion of Kif3a. Reproductive Toxicology, 48, 88–97.
153. Liu, S. S., Opperman, L. A., & Buschang, P. H. (2009). Effects of recombinant human bone morphogenetic protein-2 on midsagittal sutural bone formation during expansion. American Journal of Orthodontics and Dentofacial Orthopedics, 136(6), 768 e1–8: discussion 768–769.
154. Liu, Y., Kadlub, N., da Silva Freitas, R., Persing, J. A., Duncan, C., & Shin, J. H. (2008). The misdiagnosis of craniosynostosis as deformational plagiocephaly. Journal of Craniofacial Surgery, 19(1), 132–136.
155. Liu, Y. H., Tang, Z., Kundu, R. K., Wu, L., Luo, W., Zhu, D., … Maxson, R. E. (1999). Msx2 gene dosage influences the number of proliferative osteogenic cells in growth centers of the developing murine skull: A possible mechanism for MSX2-mediated craniosynostosis in humans. Developmental Biology, 205(2), 260–274.
156. Loeys, B. L., & Dietz, H. C., (1993). In R. A. Pagon, M. P. Adam, H. H. Ardinger, S. E. Wallace, A. Amemiya, L. J. H. Bean, … K. Stephens, (Eds.), Loeys-Dietz Syndrome. GeneReviews Seattle (WA): University of Washington, Seattle.
157. Lupski, J. R. (2012). Digenic inheritance and Mendelian disease. Nature Genetics, 44(12), 1291–1292.
158. Ma, G., Yu, J., Xiao, Y., Chan, D., Gao, B., Hu, J., … He, L. (2011). Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. Cell Research, 21(9), 1343–1357.
159. Maeno, T., Moriishi, T., Yoshida, C. A., Komori, H., Kanatani, N., Izumi, S., … Komori, T. (2011). Early onset of Runx2 expression caused craniosynostosis, ectopic bone formation, and limb defects. Bone, 49(4), 673–682.
160. Magge, S. N., Westerveld, M., Pruzinsky, T., & Persing, J. A. (2002). Long-term neuropsychological effects of sagittal craniosynostosis on child development. Journal of Craniofacial Surgery, 13(1), 99–104.
161. Mansukhani, A., Ambrosetti, D., Holmes, G., Cornivelli, L., & Basilico, C. (2005). Sox2 induction by FGF and FGFR2 activating mutations inhibits Wnt signaling and osteoblast differentiation. Journal of Cell Biology, 168(7), 1065–1076.
162. Maruyama, T., Jeong, J., Sheu, T. J., & Hsu, W. (2016). Stem cells of the suture mesenchyme in craniofacial bone development, repair and regeneration. Nature Communications, 7, 10526.
163. Mathijssen, I. M., & Arnaud, E. (2007). Benchmarking for craniosynostosis. Journal of Craniofacial Surgery, 18(2), 436–442.
164. Mathijssen, I. M., van Splunder, J., Vermeij-Keers, C., Pieterman, H., de Jong, T. H., Mooney, M. P., & Vaandrager, J. M. (1999). Tracing craniosynostosis to its developmental stage through bone center displacement. Journal of Craniofacial Genetics and Developmental Biology, 19(2), 57–63.
165. Mavrogiannis, L. A., Antonopoulou, I., Baxová, A., Kutílek, S., Kim, C. A., Sugayama, S. M., … Wilkie, A. O. (2001). Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nature Genetics, 27(1), 17–18.
166. McDonald-McGinn, D. M., Feret, H., Nah, H. D., Bartlett, S. P., Whitaker, L. A., & Zackai, E. H. (2010). Metopic craniosynostosis due to mutations in GLI3: A novel association. Journal of Medical Genetics Part A, 152A(7), 1654–1660.
167. McDonald-McGinn, D. M., Gripp, K. W., Kirschner, R. E., Maisenbacher, M. K., Hustead, V., Schauer, G. M., … Zackai, E. H. (2005). Craniosynostosis: Another feature of the 22q11.2 deletion syndrome. American Journal of Medical Genetics Part A, 136A(4), 358–362.
168. Mefford, H. C., Shafer, N., Antonacci, F., Tsai, J. M., Park, S. S., Hing, A. V., … Cunningham, M. L. (2010). Copy number variation analysis in single-suture craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. American Journal of Medical Genetics Part A, 152A(9), 2203–2210.
169. Merrill, A. E., Bochukova, E. G., Brugger, S. M., Ishii, M., Pilz, D. T., Wall, S. A., … Maxson, R. E., Jr. (2006). Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. Human Molecular Genetics, 15(8), 1319–1328.
170. Merzdorf, C. S., & Sive, H. L. (2006). The zic1 gene is an activator of Wnt signaling. International Journal of Developmental Biology, 50(7), 611–617.
171. Merzdorf, C. S. (2007). Emerging roles for zic genes in early development. Developmental Dynamics, 236(4), 922–940.
172. Meyers, G. A., Orlow, S. J., Munro, I. R., Przylepa, K. A., & Jabs, E. W. (1995). Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nature Genetics, 11(4), 462–464.
173. Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., … Ledbetter, D. H. (2010). Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. The American Journal of Human Genetics, 86(5), 749–764.
174. Milne, T. A., Briggs, S. D., Brock, H. W., Martin, M. E., Gibbs, D., Allis, C. D., & Hess, J. L. (2002). MLL targets SET domain methyltransferase activity to Hox gene promoters. Molecular Cell, 10(5), 1107–1117.
175. Mishina, Y., & Snider, T. N. (2014). Neural crest cell signaling pathways critical to cranial bone development and pathology. Experimental Cell Research, 325(2), 138–147.
176. Mitsui, N., Shimizu, K., Nishimoto, H., Mochizuki, H., Iida, M., & Ohashi, H. (2013). Patient with terminal 9 Mb deletion of chromosome 9p: Refining the critical region for 9p monosomy syndrome with trigonocephaly. Congenital Anomalies (Kyoto), 53(1), 49–53.
177. Moore, M. H., Abbott, A. H., Netherway, D. J., Menard, R., & Hanieh, A. (1998). Bilambdoid and posterior sagittal synostosis: The Mercedes Benz syndrome. Journal of Craniofacial Surgery, 9(5), 417–422.
178. Morriss-Kay, G. M., & Wilkie, A. O. (2005). Growth of the normal skull vault and its alteration in craniosynostosis: Insights from human genetics and experimental studies. Journal of Anatomy, 207(5), 637–653.
179. Morton, J. E., Frentz, S., Morgan, T., Sutherland-Smith, A. J., & Robertson, S. P. (2016). Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes. American Journal of Medical Genetics Part A, 179A, 2706–2710.
180. Muenke, M., Gripp, K. W., McDonald-McGinn, D. M., Gaudenz, K., Whitaker, L. A., Bartlett, S. P., … Zackai, E. H. (1997). A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. The American Journal of Human Genetics, 60(3), 555–564.
181. Muenke, M., Schell, U., Hehr, A., Robin, N. H., Losken, H. W., Schinzel, A., … Winter, R. M. (1994). A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nature Genetics, 8(3), 269–274.
182. Nakamura, T., Mori, T., Tada, S., Krajewski, W., Rozovskaia, T., Wassell, R., … Canaani, E. (2002). ALL-1 is a histone methyltransferase that assembles a supercomplex of proteins involved in transcriptional regulation. Molecular Cell, 10(5), 1119–1128.
183. Nakashima, K., Zhou, X., Kunkel, G., Zhang, Z., Deng, J. M., Behringer, R. R., & de Crombrugghe, B. (2002). The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation. Cell, 108(1), 17–29.
184. Neuhäuser, G., Kaveggia, E. G., & Opitz, J. M. (1976). Studies of malformation syndromes of man XXXIX: A craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: “craniofacial dyssynostosis. European Journal of Pediatrics, 123(1), 15–28.
185. Nguyen, C., Hernandez-Boussard, T., Khosla, R. K., & Curtin, C. M. (2013). A national study on craniosynostosis surgical repair. Cleft Palate-Craniofacial Journal, 50(5), 555–560.
186. Nieminen, P., Morgan, N. V., Fenwick, A. L., Parmanen, S., Veistinen, L., Mikkola, M. L., … Thesleff, I. (2011). Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth. The American Journal of Human Genetics, 89(1), 67–81.
187. Noden, D. M. (1983). The role of the neural crest in patterning of avian cranial skeletal, connective, and muscle tissues. Developmental Biology, 96(1), 144–165.
188. Noden, D. M. (1986). Origins and patterning of craniofacial mesenchymal tissues. Journal of Craniofacial Genetics and Developmental Biology, 2, 15–31.
189. Odell, J. M., Siebert, J. R., Bradley, C., & Salk, D. (1987). Duplication 7p in a family with t(7;11): Association with anomalies of the anterior cranial base. American Journal of Medical Genetics, 27(3), 687–692.
190. Okada, H., & Gosain, A. K. (2012). Current approaches to management of nonsyndromic craniosynostosis. Current Opinion in Otolaryngology & Head and Neck Surgery, 20(4), 310–317.
191. Opperman, L. A., Fernandez, C. R., So, S., & Rawlins, J. T. (2006). Erk1/2 signaling is required for Tgf-beta 2-induced suture closure. Developmental Dynamics, 235(5), 1292–1299.
192. Opperman, L. A. (2000). Cranial sutures as intramembranous bone growth sites. Developmental Dynamics, 219(4), 472–485.
193. Padmalayam, D., Tubbs, R. S., Loukas, M., & Cohen-Gadol, A. A. (2013). Absence of the sagittal suture does not result in scaphocephaly. Childs Nervous System, 29(4), 673–677.
194. Paratore, C., Brugnoli, G., Lee, H. Y., Suter, U., & Sommer, L. (2002). The role of the Ets domain transcription factor Erm in modulating differentiation of neural crest stem cells. Developmental Biology, 250(1), 168–180.
195. Park, J., Park, O. J., Yoon, W. J., Kim, H. J., Choi, K. Y., Cho, T. J., & Ryoo, H. M. (2012). Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis. Journal of Cellular Biochemistry, 113(2), 457–464.
196. Park, J. P., Graham, J. M., Jr, Berg, S. Z., & Wurster-Hill, D. H. (1988). A de novo interstitial deletion of chromosome 6 (q22.2q23.1). Clinical Genetics, 33(2), 65–68.
197. Parker, S. E., Mai, C. T., Canfield, M. A., Rickard, R., Wang, Y., Meyer, R. E., … National Birth Defects Prevention Network. (2010). Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Research Part A Clinical and Molecular Teratology, 88(12), 1008–1016.
198. Parsons, T. E., Weinberg, S. M., Khaksarfard, K., Howie, R. N., Elsalanty, M., Yu, J. C., & Cray, J. J., Jr. (2014). Craniofacial shape variation in Twist1± mutant mice. Anatomical Record (Hoboken), 297(5), 826–833.
199. Passariello, A., De Brasi, D., Defferrari, R., Genesio, R., Tufano, M., Mazzocco, K., … Tonini, G. P. (2013). Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy. European Journal of Medical Genetics, 56(11), 626–634.
200. Passos-Bueno, M. R., Serti Eacute, A. E., Jehee, F. S., Fanganiello, R., & Yeh, E. (2008). Genetics of craniosynostosis: Genes, syndromes, mutations and genotype-phenotype correlations. Frontiers of Oral Biology, 12, 107–143.
201. Paumard-Hernández, B., Berges-Soria, J., Barroso, E., Rivera-Pedroza, C. I., Pérez-Carrizosa, V., Benito-Sanz, S., … Heath, K. E. (2015). Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: Identification and characterization of novel TCF12 variants. European Journal of Human Genetics, 23(7), 907–914.
202. Persing, J. A., Jane, J. A., & Shaffrey, M. (1989). Virchow and the pathogenesis of craniosynostosis: Atranslation of his original work. Plastic and Reconstructive Surgery, 83(4), 738–742.
203. Petrini, J., Damus, K., Russell, R., Poschman, K., Davidoff, M. J., & Mattison, D. (2002). Contribution of birth defects to infant mortality in the United States. Teratology, 66(Suppl 1), S3–S6.
204. Piard, J., Rozé, V., Czorny, A., Lenoir, M., Valduga, M., Fenwick, A. L., … Maldergem, L. V. (2015). TCF12 microdeletion in a 72-year-old woman with intellectual disability. American Journal of Medical Genetics Part A, 167A(8), 1897–1901.
205. Plöger, F., Seemann, P., Schmidt-von Kegler, M., Lehmann, K., Seidel, J., Kjaer, K. W., … Mundlos, S. Brachydactyly type A2 associated with a defect in proGDF5 processing. Human Molecular Genetics, 17(9), 1222–1233.
206. Poisson, E., Sciote, J. J., Koepsel, R., Cooper, G. M., Opperman, L. A., & Mooney, M. P. (2004). Transforming growth factor-beta isoform expression in the perisutural tissues of craniosynostotic rabbits. Cleft Palate-Craniofacial Journal, 41(4), 392–402.
207. Przylepa, K. A., Paznekas, W., Zhang, M., Golabi, M., Bias, W., Bamshad, M. J., … Jabs, E. W. (1996). Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nature Genetics, 13(4), 492–494.
208. Rabl, W., Tributsch, W., & Ambach, E. (1990). Premature craniosynostosis-cause of sudden death in children and young adults. Beiträge zur Gerichtlichen Medizin, 48, 217–221.
209. Reardon, W., Winter, R. M., Rutland, P., Pulleyn, L. J., Jones, B. M., & Malcolm, S. (1994). Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genetics, 8(1), 98–103.
210. Reefhuis, J., Honein, M. A., Shaw, G. M., & Romitti, P. A. (2003). Fertility treatments and craniosynostosis: California, Georgia, and iowa, 1993–1997. Pediatrics, 111(5 Part 2), 1163–1166.
211. Reefhuis, J., & Honein, M. A. (2004). Maternal age and non-chromosomal birth defects, Atlanta-1968-2000: Teenager or thirty-something, who is at risk? Birth Defects Research Part A: Clinical and Molecular Teratology, 70(9), 572–579.
212. Regelsberger, J., Delling, G., Tsokos, M., Helmke, K., Kammler, G., Kränzlein, H., & Westphal, M. (2006). High-frequency ultrasound confirmation of positional plagiocephaly. Journal of Neurosurgery, 105(5 Suppl), 413–417.
213. Reinhold, M. I., Kapadia, R. M., Liao, Z., & Naski, M. C. (2006). The Wnt-inducible transcription factor Twist1 inhibits chondrogenesis. Journal of Biological Chemistry, 281(3), 1381–1388.
214. Rhodes, J. L., Kolar, J. C., & Fearon, J. A. (2010). Mercedes benz pattern craniosynostosis. Plastic and Reconstructive Surgery, 125(1), 299–304.
215. Rhodes, J. L., Tye, G. W., & Fearon, J. A. (2014). Craniosynostosis of the lambdoid suture. Seminars in Plastic Surgery, 28(3), 138–143.
216. Ribes, V., Otto, D. M., Dickmann, L., Schmidt, K., Schuhbaur, B., Henderson, C., … Dollé, P. (2007). Rescue of cytochrome P450 oxidoreductase (Por) mouse mutants reveals functions in vasculogenesis, brain and limb patterning linked to retinoic acid homeostasis. Developmental Biology, 303(1), 66–81.
217. Rice, D. P., Connor, E. C., Veltmaat, J. M., Lana-Elola, E., Veistinen, L., Tanimoto, Y., … Rice, R. (2010). Gli3Xt-J/Xt-J mice exhibit lambdoid suture craniosynostosis which results from altered osteoprogenitor proliferation and differentiation. Human Molecular Genetics, 19(17), 3457–3467.
218. Rice, R., Rice, D. P., Olsen, B. R., & Thesleff, I. (2003). Progression of calvarial bone development requires Foxc1 regulation of Msx2 and Alx4. Developmental Biology, 262(1), 75–87.
219. Rivero-Garvía, M., Marquez-Rivas, J., Rueda-Torres, A. B., & Ollero-Ortiz, A. (2012). Early endoscopy-assisted treatment of multiple-suture craniosynostosis. Childs Nervous System, 28(3), 427–431.
220. Rogers, G. F. (2011). Deformational plagiocephaly, brachycephaly, and scaphocephaly. Part I: Terminology, diagnosis, and etiopathogenesis. Journal of Craniofacial Surgery, 22(1), 9–16.
221. Rojnueangnit, K., & Robin, N. H. (2013). Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome. American Journal of Medical Genetics Part A, 161A(8), 2024–2026.
222. Rottgers, S. A., Lohani, S., & Proctor, M. R. (2016). Outcomes of endoscopic suturectomy with postoperative helmet therapy in bilateral coronal craniosynostosis. Journal of Medical Genetics, 18(3), 281–286.
223. Sanchez-Lara, P. A., Carmichael, S. L., Graham, J. M., Jr, Lammer, E. J., Shaw, G. M., Ma, C., & Rasmussen, S. A. National Birth Defects Prevention Study. (2010). Fetal constraint as a potential risk factor for craniosynostosis. American Journal of Medical Genetics Part A, 152A(2), 394–400.
224. Sauerhammer, T. M., Patel, K., Oh, A. K., Proctor, M. R., Mulliken, J. B., & Rogers, G. F. (2014). Combined metopic and unilateral coronal synostoses: A phenotypic conundrum. Journal of Craniofacial Surgery, 25(2), 437–440.
225. Sauerhammer, T. M., Seruya, M., Ropper, A. E., Oh, A. K., Proctor, M. R., & Rogers, G. F. (2014). Craniectomy gap patency and neosuture formation following endoscopic suturectomy for unilateral coronal craniosynostosis. Plastic and Reconstructive Surgery, 134(1), 81e–91e.
226. Schell, U., Hehr, A., Feldman, G. J., Robin, N. H., Zackai, E. H., de Die-Smulders, C., … Muenke, M. (1995). Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Human Molecular Genetics, 4(3), 323–328.
227. Schmidt, K., Hughes, C., Chudek, J. A., Goodyear, S. R., Aspden, R. M., Talbot, R., … Tickle, C. (2009). Cholesterol metabolism: The main pathway acting downstream of cytochrome P450 oxidoreductase in skeletal development of the limb. Molecular and Cellular Biology, 29(10), 2716–2729.
228. Schoenebeck, J. J., Hutchinson, S. A., Byers, A., Beale, H. C., Carrington, B., Faden, D. L., … Ostrander, E. A. (2012). Variation of BMP3 contributes to dog breed skull diversity. PLoS Genetics, 8(8), e1002849.
229. Schweitzer, T., Böhm, H., Meyer-Marcotty, P., Collmann, H., Ernestus, R. I., & Krauß, J. (2012). Avoiding CT scans in children with single-suture craniosynostosis. Childs Nervous System, 28(7), 1077–1082.
230. Selber, J., Reid, R. R., Chike-Obi, C. J., Sutton, L. N., Zackai, E. H., McDonald-McGinn, D., … Bartlett, S. P. (2008). The changing epidemiologic spectrum of single-suture synostoses. Plastic and Reconstructive Surgery, 122(2), 527–533.
231. Seto, M. L., Hing, A. V., Chang, J., Hu, M., Kapp-Simon, K. A., Patel, P. K., … Cunningham, M. L. (2007). Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. American Journal of Medical Genetics Part A, 143A(7), 678–886.
232. Shapiro, R., & Robinson, F. (1976). Embryogenesis of the human occipital bone. American Journal of Roentgenology, 126(5), 1063–1068.
233. Sharma, V. P., Fenwick, A. L., Brockop, M. S., McGowan, S. J., Goos, J. A., Hoogeboom, A. J., … 500 Whole-Genome Sequences (WGS500) Consortium. (2013). Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nature Genetics, 45(3), 304–307.
234. Shetty, A. K., Thomas, T., Rao, J., & Vargas, A. (1998). Rickets and secondary craniosynostosis associated with long-term antacid use in an infant. Archives of Pediatrics and Adolescent Medicine, 152(12), 1243–1245.
235. Shiihara, T., Kato, M., Kimura, T., Hayasaka, K., Yamamori, S., & Ogata, T. (2004). Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy. American Journal of Medical Genetics Part A, 128A(2), 214–216.
236. Shimoji, T., Shimabukuro, S., Sugama, S., & Ochiai, Y. (2002). Mild trigonocephaly with clinical symptoms: Analysis of surgical results in 65 patients. Childs Nervous System, 18(5), 215–224.
237. Shipster, C., Hearst, D., Somerville, A., Stackhouse, J., Hayward, R., & Wade, A. (2003). Speech, language, and cognitive development in children with isolated sagittal synostosis. Developmental Medicine and Child Neurology, 45(1), 34–43.
238. Shukla, D. (2016). Mercedes benz craniosynostosis. Journal of Neurosciences in Rural Practice, 7(1), 176.
239. Shukla, V., Coumoul, X., Wang, R. H., Kim, H. S., & Deng, C. X. (2007). RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. Nature Genetics, 39(9), 1145–1150.
240. Simanovsky, N., Hiller, N., Koplewitz, B., & Rozovsky, K. (2009). Effectiveness of ultrasonographic evaluation of the cranial sutures in children with suspected craniosynostosis. European Radiology, 19(3), 687–692.
241. Snider, T. N., & Mishina, Y. (2014). Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering. Birth Defects Research Part C Embryo Today, 102(3), 324–332.
242. Spazzapan, P., Arnaud, E., Baujat, G., Nizon, M., Malan, V., Brunelle, F., & Di Rocco, F. (2016). Clinical and neuroradiological features of the 9p deletion syndrome. Childs Nervous System, 32(2), 327–335.
243. Spruijt, L., Verdyck, P., Van Hul, W., Wuyts, W., & de Die-Smulders, C. (2005). A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP). American Journal of Medical Genetics Part A, 139A(1), 45–47.
244. Stamper, B. D., Mecham, B., Park, S. S., Wilkerson, H., Farin, F. M., Beyer, R. P., … Cunningham, M. L. (2012). Transcriptome correlation analysis identifies two unique craniosynostosis subtypes associated with IRS1 activation. Physiological Genomics, 44(23), 1154–1163.
245. Starr, J. R., Collett, B. R., Gaither, R., Kapp-Simon, K. A., Cradock, M. M., Cunningham, M. L., & Speltz, M. L. (2012). Multicenter study of neurodevelopment in 3-Year-Old children with and without single-Suture craniosynostosis. Archives of Pediatrics and Adolescent Medicine, 166(6), 536–542.
246. Stiffel, V., Amoui, M., Sheng, M. H., Mohan, S., & Lau, K. H. (2014). EphA4 receptor is a novel negative regulator of osteoclast activity. Journal of Bone and Mineral Research, 29(4), 804–819.
247. Styrkarsdottir, U., Cazier, J. B., Kong, A., Rolfsson, O., Larsen, H., Bjarnadottir, E., … Stefansson, K. (2003). Linkage of osteoporosis to chromosome 20p12 and association to BMP2. PLoS Biology, 1(3), E69.
248. Suga, K., Saitoh, M., Kokubo, S., Fukushima, S., Kaku, S., Yasuda, S., & Miyata, K. (2003). Interleukin-11 acts synergistically with bone morphogenetic protein-2 to accelerate bone formation in a rat ectopic model. Journal of Interferon & Cytokine Research, 23(4), 203–207.
249. Suhasini, A. N., & Brosh, R. M., Jr, (2013). Disease-causing missense mutations in human DNA helicase disorders. Mutation Research, 752(2), 138–152.
250. Swinkels, M. E., Simons, A., Smeets, D. F., Vissers, L. E., Veltman, J. A., Pfundt, R., … van Ravenswaaij-Arts, C. M. (2008). Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. American Journal of Medical Genetics Part A, 146A(11), 1430–1438.
251. Tabler, J. M., Barrell, W. B., Szabo-Rogers, H. L., Healy, C., Yeung, Y., Perdiguero, E. G., … Liu, K. J. (2013). Fuz mutant mice reveal shared mechanisms between ciliopathies and FGF-related syndromes. Developmental Cell, 25(6), 623–635.
252. Tagariello, A., Heller, R., Greven, A., Kalscheuer, V. M., Molter, T., Rauch, A., … Winterpacht, A. (2006). Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region. Journal of Medical Genetics, 43(6), 534–540.
253. Tahiri, Y., Bastidas, N., McDonald-McGinn, D. M., Birgfeld, C., Zackai, E. H., Taylor, J., & Bartlett, S. P. (2015). New pattern of sutural synostosis associated with TWIST gene mutation and saethre-Chotzen syndrome: Peace sign synostosis. Journal of Craniofacial Surgery, 26(5), 1564–1567.
254. Tamburrini, G., Caldarelli, M., Massimi, L., Santini, P., & Di Rocco, C. (2005). Intracranial pressure monitoring in children with single suture and complex craniosynostosis: A review. Childs Nervous System, 21(10), 913–921.
255. Thompson, D. N., Harkness, W., Jones, B., Gonsalez, S., Andar, U., & Hayward, R. (1995). Subdural intracranial pressure monitoring in craniosynostosis: Its role in surgical management. Childs Nervous System, 11(5), 269–275.
256. Thompson, D. N., Malcolm, G. P., Jones, B. M., Harkness, W. J., & Hayward, R. D. (1995). Intracranial pressure in single-suture craniosynostosis. The New England Journal of Medicine, 22(5), 235–240.
257. Timberlake, A. T., Choi, J., Zaidi, S., Lu, Q., Nelson-Williams, C., Brooks, E. D., … Lifton, R. P. (2016). Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. Elife, 8(5), e20125.
258. Ting, M. C., Wu, N. L., Roybal, P. G., Sun, J., Liu, L., Yen, Y., & Maxson, R. E., Jr (2009). EphA4 as an effector of Twist1 in the guidance of osteogenic precursor cells during calvarial bone growth and in craniosynostosis. Development, 136(5), 855–864.
259. Tsuji, K., Narahara, K., Yokoyama, Y., Grzeschik, K. H., & Kunz, J. (1995). The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 Locus. Human Genetics, 95(3), 303–307.
260. Tubbs, R. S., Elton, S., Blount, J. P., & Oakes, W. J. (2001). Preliminary observations on the association between simple metopic ridging in children without trigonocephaly and the Chiari I malformation. The New England Journal of Medicine, 35(3), 136–139.
261. Twigg, S. R., Forecki, J., Goos, J. A., Richardson, I. C., Hoogeboom, A. J., van den Ouweland, A. M., … WGS500 Consortium. (2015). Gain-of-Function mutations in ZIC1 are associated with Coronal craniosynostosis and learning disability. The American Journal of Human Genetics, 97(3), 378–388.
262. Twigg, S. R., Kan, R., Babbs, C., Bochukova, E. G., Robertson, S. P., Wall, S. A., … Wilkie, A. O. (2004). Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proceedings of the National Academy of Sciences of the United States of America, 101(23), 8652–8657.
263. Twigg, S. R., Vorgia, E., McGowan, S. J., Peraki, I., Fenwick, A. L., Sharma, V. P., … Wilkie, A. O. (2013). Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. Nature Genetics, 45(3), 308–313.
264. Twigg, S. R., & Wilkie, A. O. (2015). A genetic-pathophysiological framework for craniosynostosis. The American Journal of Human Genetics, 97(3), 359–377.
265. Twigg, S. R., & Wilkie, A. O. (2015). New insights into craniofacial malformations. Human Molecular Genetics, 24(R1), R50–R59.
266. Ursitti, F., Fadda, T., Papetti, L., Pagnoni, M., Nicita, F., Iannetti, G., & Spalice, A. (2011). Evaluation and management of nonsyndromic craniosynostosis. Acta Paediatrica, 100(9), 1185–1194.
267. van der Meulen, J., van der Hulst, R., van Adrichem, L., Arnaud, E., Chin-Shong, D., Duncan, C., … Renier, D. (2009). The increase of metopic synostosis: A pan-European observation. Journal of Craniofacial Surgery, 20(2), 283–286.
268. van der Meulen, J. (2012). Metopic synostosis. Childs Nervous System, 28(9),1359–1367.
269. Van Maldergem, L., Siitonen, H. A., Jalkh, N., Chouery, E., De Roy, M., Delague, V., … Verloes, A. (2006). Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. Journal of Medical Genetics, 43(2), 148–152.
270. Vannier, M. W., Hildebolt, C. F., Marsh, J. L., Pilgram, T. K., McAlister, W. H., Shackelford, G. D., … Knapp, R. H. (1989). Craniosynostosis: Diagnostic value of three-dimensional CT reconstruction. Radiology, 173(3), 669–673.
271. Varvagiannis, K., Stefanidou, A., Gyftodimou, Y., Lord, H., Williams, L., Sarri, C., … Petersen, M. B. (2013). Pure de novo partial trisomy 6p in a girl with craniosynostosis. American Journal of Medical Genetics Part A, 161A(2), 343–351.
272. Virchow R. 1851. Ueber den Cretinismus, namentlich in Franken, und ueber pathologische Schadelformen. Verhandlungen Physikalisch-Medizinische Gesellschaft Würzburg, 2 230.
273. Vissers, L. E., Cox, T. C., Maga, A. M., Short, K. M., Wiradjaja, F., Janssen, I. M., … Roscioli, T. (2011). Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genetics, 7(9), e002278.
274. Wang, X. P., O'Connell, D. J., Lund, J. J., Saadi, I., Kuraguchi, M., Turbe-Doan, A., … Maas, R. L. (2009). Apc inhibition of Wnt signaling regulates supernumerary tooth formation during embryogenesis and throughout adulthood. Development, 136(11), 1939–1949.
275. Wang, Y., Zhou, X., Oberoi, K., Phelps, R., Couwenhoven, R., Sun, M., … Jabs, E. W. (2012). P38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice. Journal of Clinical Investigation, 122(6), 2153–2164.
276. Warren, S. M., Brunet, L. J., Harland, R. M., Economides, A. N., & Longaker, M. T. (2003). The BMP antagonist noggin regulates cranial suture fusion. Nature, 422(6932), 625–629.
277. Weber, I., Ninkovic, M., Janecke, A. R., Utermann, B., Witsch Baumgartner, M., Anderl, H., & Utermann, G. (2001). Molecular analyisis of 74 patients with craniosynostosis. European Journal of Human Genetics, 9(Sup. 1), P0409.
278. Wehby, G. L., & Cassell, C. H. (2010). The impact of orofacial clefts on quality of life and healthcare use and costs. Oral Diseases, 16(1), 3–10.
279. Weiss, J., Kotelchuck, M., Grosse, S. D., Manning, S. E., Anderka, M., Wyszynski, D. F., … Higgins, C. (2009). Hospital use and associated costs of children aged zero-to-two years with craniofacial malformations in Massachusetts. Birth Defects Research Part A: Clinical and Molecular Teratology, 85(11), 925–934.
280. Wilkie, A. O., Bochukova, E. G., Hansen, R. M., Taylor, I. B., Rannan-Eliya, S. V., Byren, J. C., … Lester, T. (2007). Clinical dividends from the molecular genetic diagnosis of craniosynostosis. American Journal of Medical Genetics Part A, 143A(16), 1941–1949.
281. Wilkie, A. O., Byren, J. C., Hurst, J. A., Jayamohan, J., Johnson, D., Knight, S. J., … Wall, S. A. (2010). Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Pediatrics, 126(2), e391–e400.
282. Wilkie, A. O., Slaney, S. F., Oldridge, M., Poole, M. D., Ashworth, G. J., Hockley, A. D., … Reardon, W. (1995). Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genetics, 9(2), 165–172.
283. Wilkie, A. O., Tang, Z., Elanko, N., Walsh, S., Twigg, S. R., Hurst, J. A., … Maxson, R. E., Jr. (2000). Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nature Genetics, 24(4), 330–331.
284. Wilkie, A. O. (1997). Craniosynostosis: Genes and mechanisms. Human Molecular Genetics, 6(10), 1647–1656.
285. Williams, H. (2008). Lumps, bumps and funny shaped heads. Archives of Disease in Childhood. Education and Practice, 93(4), 120–128.
286. Xiao, G., Jiang, D., Gopalakrishnan, R., & Franceschi, R. T. (2002). Fibroblast growth factor 2 induction of the osteocalcin gene requires MAPK activity and phosphorylation of the osteoblast transcription factor, Cbfa1/Runx2. Journal of Biological Chemistry, 277(39), 36181–36187.
287. Yagnik, G., Drissi, H., Stevens, C., & Boyadjiev, S. (2010). RUNX2 Polymorphisms in Patients with Nonsyndromic Sagittal Craniosynostosis. Proceedings of the 60th Annual Meeting of The American Society of Human Genetics, November 6, Washington DC.
288. Yagnik, G., Ghuman, A., Kim, S., Stevens, C. G., Kimonis, V., Stoler, J., … Boyadjiev, S. A. (2012). ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. Human Mutation, 33(12), 1626–1629.
289. Yamamoto, T., Sameshima, K., Sekido, K., Aida, N., Matsumoto, N., Naritomi, K., & Kurosawa, K. (2006). Trigonocephaly in a boy with paternally inherited deletion 22q11. 2 syndrome. American Journal of Medical Genetics Part A, 140A(12), 1302–1304.
290. Yan, Y., Tang, D., Chen, M., Huang, J., Xie, R., Jonason, J. H., … Chen, D. (2009). Axin2 controls bone remodeling through the beta-catenin-BMP signaling pathway in adult mice. Journal of Cell Science, 122(Pt 19), 3566–3578.
291. Ye, X., Guilmatre, A., Reva, B., Peter, I., Heuzé, Y., Richtsmeier, J. T., … Romitti, P. A. (2016). Mutation screening of candidate genes in patients with nonsyndromic sagittal craniosynostosis. Plastic and Reconstructive Surgery, 137(3), 952–961.
292. Yoon, S. J., Wills, A. E., Chuong, E., Gupta, R., & Baker, J. C. (2011). HEB and E2A function as SMAD/FOXH1 cofactors. Genes & Development, 25(15), 1654–1661.
293. Yu, B. D., Hess, J. L., Horning, S. E., Brown, G. A., & Korsmeyer, S. J. (1995). Altered Hox expression and segmental identity in Mll-mutant mice. Nature, 378(6556), 505–508.
294. Yu, H. M., Jerchow, B., Sheu, T. J., Liu, B., Costantini, F., Puzas, J. E., … Hsu, W. (2005). The role of Axin2 in calvarial morphogenesis and craniosynostosis. Development, 132(8), 1995–2005.
295. Yu, J. C., Lucas, J. H., Fryberg, K., & Borke, J. L. (2001). Extrinsic tension results in FGF-2 release, membrane permeability change, and intracellular Ca + + increase in immature cranial sutures. Journal of Craniofacial Surgery, 12(4), 391–398.
296. Zeiger, J. S., Beaty, T. H., Hetmanski, J. B., Wang, H., Scott, A. F., Kasch, L., … VanderKolk, C. (2002). Genetic and environmental risk factors for sagittal craniosynostosis. Journal of Craniofacial Surgery, 13(5), 602–606.
297. Zhang, X., Kuroda, S., Carpenter, D., Nishimura, I., Soo, C., Moats, R., … Ting, K. (2002). Craniosynostosis in transgenic mice overexpressing Nell-1. Journal of Clinical Investigation, 110(6), 861–870.
298. Zhao, H., & Chai, Y. (2015). Stem cells in teeth and craniofacial bones. J Dent Res, 94(11), 1495–1501.
299. Zneimer, S. M., Cotter, P. D., & Stewart, S. D. (2000). Telomere-telomere (end to end) fusion of chromosomes 7 and 22 with an interstitial deletion of chromosome 7p11. 2–>p15. 1: Phenotypic consequences and possible mechanisms. Clinical Genetics, 58(2), 129–133.