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Morphological integration of soft‐tissue facial morphology in down syndrome and siblings
Author(s) -
Starbuck John,
Reeves Roger H.,
Richtsmeier Joan
Publication year - 2011
Publication title -
american journal of physical anthropology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.146
H-Index - 119
eISSN - 1096-8644
pISSN - 0002-9483
DOI - 10.1002/ajpa.21583
Subject(s) - craniofacial , trisomy , hypertelorism , biology , anthropometry , anatomy , craniofacial abnormality , phenotype , aneuploidy , genetics , chromosome , gene , medicine
Down syndrome (DS), resulting from trisomy of chromosome 21, is the most common live‐born human aneuploidy. The phenotypic expression of trisomy 21 produces variable, though characteristic, facial morphology. Although certain facial features have been documented quantitatively and qualitatively as characteristic of DS (e.g., epicanthic folds, macroglossia, and hypertelorism), all of these traits occur in other craniofacial conditions with an underlying genetic cause. We hypothesize that the typical DS face is integrated differently than the face of non‐DS siblings, and that the pattern of morphological integration unique to individuals with DS will yield information about underlying developmental associations between facial regions. We statistically compared morphological integration patterns of immature DS faces ( N = 53) with those of non‐DS siblings ( N = 54), aged 6–12 years using 31 distances estimated from 3D coordinate data representing 17 anthropometric landmarks recorded on 3D digital photographic images. Facial features are affected differentially in DS, as evidenced by statistically significant differences in integration both within and between facial regions. Our results suggest a differential affect of trisomy on facial prominences during craniofacial development. Am J Phys Anthropol, 2011. © 2011 Wiley Periodicals, Inc.