Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit

American Journal of Medical Genetics, Part A

Volumn 152, Issue 6, 2010, Pages 1383-1389

  Kini, Usha ^a   Hurst, Jane A ^a,b   Byren, Jo C ^b   Wall, Steven A ^b   Johnson, David ^b   Wilkie, Andrew O M ^a,b,c  

^a CHURCHILL HOSPITAL   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Chromosomal abnormalities; Metopic synostosis; Nonsyndromic; Trigonocephaly; Valproate exposure

Indexed keywords

ENOXAPARIN; THYROXINE; VALPROIC ACID;

ARTICLE; CHROMOSOME ABERRATION; CRANIOFACIAL MALFORMATION; GENE DELETION; GENE DUPLICATION; GREIG CEPHALOPOLYSYNDACTYLY; HUMAN; MAJOR CLINICAL STUDY; METOPIC SYNOSTOSIS; PRIORITY JOURNAL; RISK FACTOR; SILVER RUSSELL SYNDROME; SYNOSTOSIS;

ADOLESCENT; ANTICOAGULANTS; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CRANIOSYNOSTOSES; ENOXAPARIN; FEMALE; HUMANS; MALE; PREGNANCY; PREGNANCY IN DIABETICS; PRENATAL EXPOSURE DELAYED EFFECTS; THYROXINE; VALPROIC ACID; YOUNG ADULT;

EID: 77952761199     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33435     Document Type: Article

References (51)

1. Alfi OS, Donnell GN, Allderdice PW, Derencsenyi A. 1976. The 9p-syndrome. Ann Genet 19:11-16.
2. Anderson FM, Geiger L. 1965. Craniosynostosis: A survey of 204 cases. J Neurosurg 22:229-240.
3. Azimi C, Kennedy SJ, Chitayat D, Chakraborty P, Clarke JT, Forrest C, Teebi AS. 2003. Clinical and genetic aspects of trigonocephaly: A study of 25 cases. Am J Med Genet Part A 117A:127-135. (Pubitemid 37064006)
4. Becker DB, Petersen JD, Kane AA, Cradock MM, Pilgram TK, Marsh JL. 2005. Speech, cognitive, and behavioral outcomes in nonsyndromic craniosynostosis. Plast Reconstr Surg 116:400-407.
5. Chinen Y, Kaname T, Yanagi K, Saito N, Naritomi K, Ohta T. 2006. Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1). Am J Med Genet Part A 140A:1655-1657. (Pubitemid 44148252)
6. Cohen MM Jr, MacLean RE. 2000. Craniosynostosis: Diagnosis, evaluation, and management. New York: Oxford University Press.
7. Cristofori G, Filippi G. 1992. Saethre-Chotzen syndrome with trigonocephaly. Am J Med Genet 44:611-614.
8. Czakó M, Riegel M, Morava E, Bajnóczky K, Kosztolányi G. 2004. Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q. Am J Med Genet Part A 131A:310-312.
9. Dunac A, Van Bogaert P, David P, Avni EF, Paduart O, Szliwowski HB, Van Regemorter N. 1995. Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome. Neuropediatrics 26:273-275.
10. Escobar VH. 1977. Autosomal dominant trigonocephaly. J Med Genet 14:293-295.
11. EUROCAT Working Group. 1997. EUROCAT report 7.Surveillance of Congenital Anomalies in Europe 1980-1994. Brussels: Scientific Institute of Public Health.
12. Foley P, McAuliffe F, Mullarkey M, Reardon W. 2007. Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome). Clin Dysmorphol 16:177-179.
13. Frydman M, Kauschansky A, Elian E. 1984. Trigonocephaly: Anew familial syndrome. Am J Med Genet 18:55-59.
14. Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH. 1999. TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome. Am J Med Genet 15:170-176. (Pubitemid 29055072)
15. Haaf T, Hofmann R, Schmid M. 1991. Opitz trigonocephaly syndrome.Am J Med Genet 40:444-446.
16. Hauge X, Raca G, Cooper S, May K, Spiro R, Adam M, Martin CL. 2008. Detailed characterization of, and clinical correlations in 10 patients with distal deletions of chromosome 9p. Genet Med 10:599-611.
17. Hornstein L, Soukup S. 1981. A recognizable phenotype in a child with partial duplication 13q in a family with t(10q;13q). Clin Genet 19:81-86. (Pubitemid 11136950)
18. Hunenko O, Karmacharya J, Ong G, Kirschner RE. 2001. Toward an understanding of nonsyndromic craniosynostosis: Altered patterns of TGF-beta receptor and FGF receptor expression induced by intrauterine head constraint. Ann Plast Surg 46:546-553. (Pubitemid 32406016)
19. Hunter AG, Rudd NL. 1977. Craniosynostosis. II. Coronal synostosis: Its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly. Teratology 15:301-309.
20. Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sá Moreira E, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. 2005. Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clin Genet 67:503-510. (Pubitemid 40637448)
21. Jehee FS, Alonso LG, Cavalcanti DP, Kim C, Wall SA, Mulliken JB, Sun M, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. 2006. Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. Cleft Palate Craniofac J 43:148-151.
22. Jehee FS, Krepischi-Santos AC, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D'Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR. 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. J Med Genet 45:447-450. (Pubitemid 351977135)
23. Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO. 2002. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet 70:472-486. (Pubitemid 34112300)
24. Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K. 2007. Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet 81:835-841. (Pubitemid 47596551)
25. Kelleher MO, Murray DJ, McGillivary A, Kamel MH, Allcutt D, Earley MJ. 2006. Behavioral, developmental, and educational problems in children with nonsyndromic trigonocephaly. J Neurosurg 105:382-384. (Pubitemid 44954767)
26. Kini U. 2006. Fetal valproate syndrome: A review. Paediatr Perinat Drug Ther 7:123-130.
27. Kress W, Petersen B, Collmann H, Grimm T. 2000. An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non -syndromic trigonocephaly. Cytogenet Cell Genet 91:38-40. (Pubitemid 32110355)
28. Lajeunie E, Le Merrer M, Marchac D, Renier D. 1998. Syndromal and nonsyndromal primary trigonocephaly: Analysis of a series of 237 patients. Am J Med Genet 75:211-215. (Pubitemid 28034504)
29. Lajeunie E, Barcik U, Thorne JA, El Ghouzzi V, Bourgeois M, Renier D. 2001. Craniosynostosis and fetal exposure to sodium valproate. J Neurosurg 95:778-782. (Pubitemid 33043350)
30. Lajeunie E, Crimmins DW, Arnaud E, Renier D. 2005. Genetic considerations in nonsyndromic midline craniosynostoses: A study of twins and their families. J Neurosurg 103:353-356. (Pubitemid 44954890)
31. Lidegaard O, Pinborg A, Andersen AN. 2005. Imprinting diseases and IVF: Danish National IVF cohort study. Hum Reprod 20:950-954. (Pubitemid 40674198)
32. Lindor NM, Ramin KD, Kleinberg F, Bite U. 2000. Severe end of Opitz trigonocephaly C syndrome. Am J Med Genet 92:363-365. (Pubitemid 30341482)
33. Manipalviratn S, DeCherney A, Segars J. 2009. Imprinting disorders and assisted reproductive technology. Fertil Steril 91:305-310.
34. Nakane T, Kubota T, Fukushima Y, Hata Y, Ishii J, Komiyama A. 2000. Opitz trigonocephaly (C)-like syndrome, or Bohring-Opitz syndrome: Another example. Am J Med Genet 92:361-362. (Pubitemid 30341481)
35. Obregon MG, Mingarelli R, Digilio MC, Zelante L, Giannotti A, Sabatino G, Dallapiccola B. 1992. Deletion 11q23->qter (Jacobsen syndrome). Report of three new patients. Ann Genet 35:208-212.
36. Omtzigt JG, Los FJ, Grobbee DE, Pijpers L, Jahoda MG, Brandenburg H, Stewart PA, Gaillard HL, Sachs ES, Wladimiroff JW, et al. 1992. The risk of spina bifida aperta after first-trimester exposure to valproate in a prenatal cohort. Neurology 42:119-125.
37. Ramos Fuentes FJ, Nicholson L, Scott CI Jr. 1994. Phenotypic variability in the Baller-Gerold syndrome: Report of a mildly affected patient and review of the literature. Eur J Pediatr 153:483-487. (Pubitemid 24210277)
38. Rasmussen SA, Yazdy MM, Carmichael SL, Jamieson DJ, Canfield MA, Honein MA. 2007. Maternal thyroid disease as a risk factor for craniosynostosis. Obstet Gynecol 110:369-377. (Pubitemid 47356663)
39. Sargent C, Burn J, Baraitser M, Pembrey ME. 1985. Trigonocephaly and the Opitz C syndrome. J Med Genet 22:39-45.
40. Say B, Meyer J. 1981. Familial trigonocephaly associated with short stature and developmental delay. Am J Dis Child 135:711-712. (Pubitemid 11060692)
41. Selber J, Reid RR, Chike-Obi CJ, Sutton LN, Zackai EH, McDonald-McGinn D, Sonnad SS, Whitaker LA, Bartlett SP. 2008. The changing epidemiologic spectrum of single-suture synostoses. Plast Reconstr Surg 122:527-533.
42. Shillito J Jr, Matson DD. 1968. Craniosynostosis: A review of 519 surgical patients. Pediatrics 41:829-853.
43. Swinkels ME, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, de Vries BB, Faas BH, Schrander-Stumpel CT, McCann E, Sweeney E, May P, Draaisma JM, Knoers NV, van Kessel AG, van Ravenswaaij-Arts CM. 2008. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am J Med Genet Part A 146A:1430-1438. (Pubitemid 351770207)
44. Tartaglia M, Bordoni V, Velardi F, Basile RT, Saulle E, Tenconi R, Di Rocco C, Battaglia PA. 1999. Fibroblast growth factor receptor mutational screening in newborns affected by metopic synostosis. Childs Nerv Syst 15:389-393, discussion 393-394. (Pubitemid 29414936)
45. Valentin M, Ducarme G, Yver C, Vuillard E, Belarbi N, Renier D, Luton D. 2008. Trigonocephaly and valproate: A case report and review of literature. Prenat Diagn 28:259-261. (Pubitemid 351427949)
46. Van Allen MI, Siegel-Bartelt J, Feigenbaum A, Teshima IE. 1992. Craniosynostosis associated with partial duplication of 15q and deletion of 2q. Am J Med Genet 43:688-692.
47. van der Meulen J, van den Ouweland A, Hoogeboom J. 2006. Trigonocephaly in Muenke syndrome. Am J Med Genet Part A 140A:2493-2494.
48. Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestilä M, Gillerot Y, Mégarbané A, Verloes A. 2006. Revisiting the craniosynostosis -radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet 43:148-152. (Pubitemid 43259628)
49. 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. Am J Med Genet Part A 140A:1302-1304. (Pubitemid 43835417)
50. Yatsenko SA, Cheung SW, Scott DA, Nowaczyk MJ, Tarnopolsky M, Naidu S, Bibat G, Patel A, Leroy JG, Scaglia F, Stankiewicz P, Lupski JR. 2005. Deletion 9q34.3 syndrome: Genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. J Med Genet 42:328-335. (Pubitemid 40523956)
51. Zollino M, Tiziano F, Di Stefano C, Neri G. 1999. Partial duplication of the long arm of chromosome 15: Confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome. Am J Med Genet 87:391-394. (Pubitemid 30007721)