Trisomy 21 and facial developmental instability

American Journal of Physical Anthropology

Volumn 151, Issue 1, 2013, Pages 49-57

  Starbuck, John M ^a   Cole III, Theodore M ^b   Reeves, Roger H ^c   Richtsmeier, Joan T ^a,c  

^a PENNSYLVANIA STATE UNIVERSITY   (United States)

^b UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

3dMD; craniofacial morphology; Down syndrome; facial development; fluctuating asymmetry

Indexed keywords

ANATOMIC LANDMARK; ARTICLE; CASE CONTROL STUDY; CHILD; CHROMOSOMAL INSTABILITY; CHROMOSOME MOSAICISM; CLINICAL TRIAL; COMPARATIVE STUDY; CRANIOFACIAL MORPHOLOGY; DOWN SYNDROME; FACE DEVELOPMENT; FACE SURGERY; FEMALE; FLUCTUATING ASYMMETRY; HUMAN; MAJOR CLINICAL STUDY; MALE; MANDIBLE; MORPHOGENESIS; PRESCHOOL CHILD; SCHOOL CHILD; SIBLING; TRISOMY 21;

ANTHROPOLOGY, PHYSICAL; ANTHROPOMETRY; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CLUSTER ANALYSIS; DOWN SYNDROME; FACE; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; PHOTOGRAPHY;

EID: 84876463666     PISSN: 00029483     EISSN: 10968644     Source Type: Journal    
DOI: 10.1002/ajpa.22255     Document Type: Article

References (75)

1. Aldridge K, Boyadjiev SA, Capone GT, DeLeon VB, Richtsmeier JT,. 2005. Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images. Am J Med Genet A 138: 247-253.
2. Barden HS,. 1980. Fluctuating dental asymmetry: a measure of developmental instability in Down syndrome. Am J Phys Anthropol 52: 169-173.
3. Birchler JA, Riddle NC, Auger DL, Veitia RA,. 2005. Dosage balance in gene regulation: biological implications. Trends Genet 21: 219-226.
4. Birchler JA, Yao H, Chudalayandi S,. 2007. Biological consequences of dosage dependent gene regulatory systems. Biochim Biophys Acta 1769: 422-428.
5. Blazek JD, Billingsley CN, Newbauer A, Roper RJ,. 2010. Embryonic and not maternal trisomy causes developmental attenuation in the Ts65Dn mouse model for Down syndrome. Dev Dyn 239: 1645-1653.
6. Brugmann SA, Tapadia MD, Helms J,. 2006. The molecular origins of species-specific facial pattern. Curr Top Dev Biol 73: 1-42.
7. Brugmann SA, Kim J, Helms J,. 2006. Looking different: understanding diversity in facial form. Am J Med Genet A 140: 2521-2529.
8. Brugmann SA, Goodnough LH, Gregorieff A, Leucht P, ten Berge D, Fuerer C, Clevers H, Nusse R, Helms J,. 2007. Wnt signaling mediates regional specification in the vertebrate face. Development 134: 3283-3295.
9. Chai Y, Maxson RE Jr,. 2006. Recent advances in craniofacial morphogenesis. Dev Dyn 235: 2353-2375.
10. Claes P, Walters M, Vandermeulen D, Clement JG,. 2011. Spatially-dense 3D facial asymmetry assessment in both typical and disordered growth. J Anat 219: 444-455.
11. Claes P, Walters M, Shriver MD, Puts DA, Gibson G, Clement JG, Baynam G, Verbeke G, Vandermeulen D, Suetens P,. 2012. Sexual dimorphism in multiple aspects of 3D facial symmetry and asymmetry defined by spatially-dense geometric morphometrics. J Anat 221: 97-114.
12. Clarke G,. 1992. Fluctuating asymmetry: a technique for measuring developmental stress of genetic and environmental origin. Acta Zool Fennica 191: 34-35.
13. Cole TM III,. 2001. Further applications of EDMA. In:, Lele S, Richtsmeier J, editors. An invariant approach to statistical analysis of shapes. Boca Raton: Chapman and Hall/CRC. p 263-284.
14. Cordero DR, Brugmann S, Chu Y, Bajpai R, Jame M, Helms JA,. 2010. Cranial neural crest cells on the move: their roles in craniofacial development. Am J Med Genet A 155: 270-279.
15. Cronk CE, Reed RB,. 1981. Canalization of growth in Down syndrome children three months to six years. Hum Biol 53: 383-398.
16. Davison AC, Hinkley DV,. 1997. Bootstrap methods and their applications. Cambridge: Cambridge University Press.
17. DeLeon VB,. 2007. Fluctuating asymmetry and stress in a medieval Nubian population. Am J Phys Anthropol 132: 520-534.
18. Dongen SV,. 2006. Fluctuating asymmetry and developmental instability in evolutionary biology: past, present and future. J Evol Biol 19: 1727-1743.
19. Dunlap SS, Aziz MA, Rosenbaum KN,. 1986. Comparative anatomical analysis of human trisomies 13, 18, and 21: I. The forelimb. Teratology 33: 159-186.
20. Efron B, Tibshirani R,. 1993. An introduction to the bootstrap. New York: Chapman and Hall.
21. Feng W, Leach SM, Tipney H, Phang T, Geraci M, Spritz RA, Hunter LE, Williams T,. 2009. Spatial and temporal analysis of gene expression during growth and fusion of the mouse facial prominences. PLoS One 4: 1-31.
22. Fisher WL,. 1983. Quantitative and qualitative characteristics of the face in Down's syndrome. J Michigan Dent Assoc 65: 105-107.
23. Foppiana S, Hu D, Marcucio RS,. 2007. Signaling by bone morphogenetic proteins directs formation of an ectodermal signaling center that regulated craniofacial development. Dev Biol 312: 103-114.
24. Frostad WA, Cleall JF, Melosky LC,. 1971. Craniofacial complex in the trisomy 21 syndrome (Down's syndrome). Arch Oral Biol 16: 707-722.
25. Hallgrímsson B, Willmore K, Hall BK,. 2002. Canalization, developmental stability, and morphological integration in primate limbs. Am J Phys Anthropol Suppl 35: 131-158.
26. Hammond P, Forster-Gibson C, Chudley AE, Allanson JE, Hutton TJ, Farrell SA, McKenzie J, Holden JJA, Lewis MES,. 2008. Face-brain asymmetry in autism spectrum disorders. Mol Psychiatr 13: 614-623.
27. Hassold T, Hunt PA, Sherman S,. 1993. Trisomy in humans: incidence, origin and etiology. Curr Opin Genet Dev 3: 398-403.
28. Helms J, Cordero D, Tapadia MD,. 2005. New insights into craniofacial morphogenesis. Development 132: 851-861.
29. Hu D, Helms J,. 1999. The role of Sonic hedgehog in normal and abnormal craniofacial morphogenesis. Development 126: 4873-4884.
30. Hu D, Marcucio RS, Helms J,. 2003. A zone of frontonasal ectoderm regulates patterning and growth in the face. Development 130: 1749-1758.
31. Hu D, Marcucio RS,. 2009. Unique organization of the frontonasal ectodermal zone in birds and mammals. Dev Biol 325: 200-210.
32. Hu D, Marcucio RS,. 2009. A SHH-responsive signaling center in the forebrain regulates craniofacial morphogenesis via the facial ectoderm. Development 136: 107-116.
33. Ionita-Laza I, Rogers AJ, Lange C, Raby BA, Lee C,. 2009. Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis. Genomics 93: 22-26.
34. Jiang R, Bush JO, Lidral A,. 2006. Development of the upper lip: morphogenetic and molecular mechanisms. Dev Dyn 235: 1152-1166.
35. Jones KL,. 2006. Smith's recognizable patterns of human malformation, 6th ed. Philadelphia: Elsevier.
36. Kahlem P, Sultan M, Herwig R, Steinfath M, Balzereit D, Eppens B, Saran NG, Pletcher MT, South ST, Stetten G, Lehrach H, Reeves RH, Yaspo ML. 2004. Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of Down syndrome. Genome Res 14: 1258-1267.
37. Kisling E,. 1966. Cranial morphology in Down's syndrome: a comparative roentgencephalometric study in adult males. Copenhagen: Orthodontic Department, Royal Danish Dental College.
38. Klingenberg C, McIntyre G,. 1998. Geometric morphometrics of developmental instability: analyzing patterns of fluctuating asymmetry with Procrustes methods. Evolution 52: 1363-1375.
39. Klingenberg CP, Barluenga M, Meyer A,. 2002. Shape analysis of symmetric structures: quantifying variation among individuals and asymmetry. Evolution 56: 1909-1920.
40. Klingenberg CP, Wetherill L, Rogers J, Moore E, Ward R, Autti-Ramo I, Fagerlund A, Jacobson SW, Robinson LK, Hoyme HE, et al. 2010. Prenatal alcohol exposure alters the patterns of facial asymmetry. Alcohol 44: 649-657.
41. Klingenberg CP,. 2011. MorphoJ: an integrated software package for geometric morphometrics. Mol Ecol Resour 11: 353-357.
42. Korbel JO, Tirosh-Wagner T, Urban AE, Chen XN, Kasowski M, Dai L, Grubert F, Erdman C, Gao MC, Lange K, et al. 2009. The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci USA 106: 12031-12036.
43. Liu B, Rooker SM, Helms JA,. 2010. Molecular control of facial morphology. Semin Cell Dev Biol 21: 309-313.
44. Livshits G, Kobyliansky E,. 1991. Fluctuating asymmetry as a possible measure of developmental homeostasis in humans: a review. Hum Biol 63: 441-466.
45. Makino T, McLysaght A,. 2010. Ohnologs in the human genome are dosage balanced and frequently associated with disease. Proc Natl Acad Sci USA 107: 9270-9274.
46. Marcucio RS, Cordero DR, Hu D, Helms J,. 2005. Molecular interactions coordinating the development of the forebrain and face. Dev Biol 284: 48-61.
47. Megarbane A, Ravel A, Mircher C, Sturtz F, Grattau Y, Rethore MO, Delabar JM, Mobley WC,. 2009. The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome. J Med Genet 11: 611-616.
48. Naugler CT, Ludman MD,. 1996. Fluctuating asymmetry and disorders of developmental origin. Am J Med Genet 66: 15-20.
49. Palmer A, editor. 1994. Fluctuating asymmetry analysis: a primer. New York: Springer. p 335-364.
50. Palmer A, Strobeck C,. 1992. Fluctuating asymmetry as a measure of developmental stability: implications of non-normal distributions and power of statistical tests. Acta Zool Fennica 191: 57-72.
51. Palmer A, Strobeck C, editors. 2003. Fluctuating asymmetry analyses revisited. New York: Oxford University Press. p 279-319.
52. Palmer AR, Strobeck C,. 1986. Fluctuating asymmetry: measurement, analysis, patterns. Ann Rev Ecol Syst 17: 391-421.
53. Parsons T, Ryan TM, Reeves RH, Richtsmeier JT,. 2007. Microstructure of trabecular bone in a mouse model for Down syndrome. Anat Rec (Hoboken) 290: 414-421.
54. Reeves RH, Baxter LL, Richtsmeier JT,. 2001. Too much of a good thing: mechanisms of gene action in Down syndrome. Trends Genet 17: 83-88.
55. Richtsmeier JT, Lele S, Cole III TM,. 2005. An invariant approach to the study of fluctuating asymmetry: developmental instability in a mouse model for Down syndrome. In:, Slice D, editor. Modern morphometrics in physical anthropology. New York: Kluwer Academic/Plenum Publishers Series. p 187-212.
56. Roper RJ, VanHorn JF, Cain CC, Reeves RH,. 2009. A neural crest deficit in Down syndrome mice is associated with deficient mitotic response to Sonic hedgehog. Mech Dev 126: 212-219.
57. Rueda N, Flõrez J, Martínez-Cué C,. 2012. Mouse models of Down syndrome as a tool to unravel the causes of mental disabilities. Neural Plast 2012: 1-26.
58. Schmidt JL, Cole TM III, Silcox MT,. 2011. A landmark-based approach to the study of ear ossicles using ultra-high-resolution X-ray computed tomography data. Am J Phys Anthropol 145: 665-671.
59. Shapiro B,. 1970. Prenatal dental anomalies in Mongolism: Comments on the Basis and Implications of variability. Ann NY Acad Sci 171: 562-577.
60. Shapiro B,. 1975. Amplified developmental instability in Down's syndrome. Ann Hum Genet 38: 429-437.
61. Shapiro B,. 1983. Down syndrome-a disruption of homeostasis. Am J Med Genet 14: 241-269.
62. Shapiro BL,. 1992. Development of human autosomal aneuploid phenotypes (with an emphasis on Down syndrome). Acta Zool Fennica 191: 97-105.
63. Shapiro BL, Gorlin RJ, Redman RS, Bruhl HH,. 1967. The palate and Down's syndrome. N Engl J Med 276: 1460-1463.
64. Szabo-Rogers HL, Geetha-Loganathan P, Nimmagadda S, Fu KK, Richman JM,. 2008. FGF signals from the nasal pit are necessary for normal facial morphogenesis. Dev Biol 318: 289-302.
65. Townsend GC,. 1983. Fluctuating dental asymmetry in Down's syndrome. Aust Dent J 28: 39-44.
66. Valeri CJ, Cole TM III, Lele S, Richtsmeier JT, 1998. Capturing data from three-dimensional surfaces using fuzzy landmarks. Am J Phys Anthropol 107: 113-124.
67. Veitia RA, Bottani S, Birchler JA,. 2008. Cellular reactions to gene dosage imbalance: genomic, transcriptomic and proteomic effects. Trends Genet 24: 390-397.
68. Waddington CH,. 1957. The strategy of the genes. London: George Allen & Unwin.
69. Weinberg SM, Naidoo S, Govier DP, Martin RA, Kane AA, Marazita ML,. 2006. Anthropometric precision and accuracy of digital three-dimensional photogrammetry: comparing the Genex and 3dMD imaging systems with one another and with direct anthropometry. J Craniofac Surg 17: 477-483.
70. Willmore KE, Klingenberg CP, Hallgrímsson B,. 2005. The relationship between fluctuating asymmetry and environmental variance in rhesus macaque skulls. Evolution 59: 898-909.
71. Willmore KE, Zelditch ML, Young N, Ah-Seng A, Lozanoff S, Hallgrímsson B,. 2006. Canalization and developmental stability in the Brachyrrhine mouse. J Anat 208: 361-372.
72. Wiseman FK, Alford KA, Tybulewicz VL, Fisher EM,. 2009. Down syndrome-recent progress and future prospects. Hum Mol Genet 18: R75-R83.
73. Wong JY, Oh AK, Ohta E, Hunt AT, Rogers GF, Mulliken JB, Deutsch CK,. 2008. Validity and reliability of craniofacial anthropometric measurement of 3D digital photogrammetric images. Cleft Palate Craniofac J 45: 232-239.
74. Wyganowska-Świa̧tkowska M, Przystańska A,. 2011. The Meckel's cartilage in human embryonic and early fetal periods. Anat Sci Int 86: 98-107.
75. Young NM, Chong JH, Hu D, Hallgrímsson B, Marcucio RS,. 2010. Quantitative analyses link modulation of sonic hedgehog signaling to continuous variation in facial growth and shape. Development 137: 3405-3409.