Open AccessCraniofacial morphometric analysis of individuals with X‐linked hypohidrotic ectodermal dysplasia
Author(s) -
Goodwin Alice F.,
Larson Jacinda R.,
Jones Kyle B.,
Liberton Denise K.,
Landan Maya,
Wang Zhifeng,
Boekelheide Anne,
Langham Margaret,
Mushegyan Vagan,
Oberoi Snehlata,
Brao Rosalie,
Wen Timothy,
Johnson Ramsey,
Huttner Kenneth,
Grange Dorothy K.,
Spritz Richard A.,
Hallgrímsson Benedikt,
Jheon Andrew H.,
Klein Ophir D.
Publication year - 2014
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.84
Subject(s) - hypohidrotic ectodermal dysplasia , craniofacial , philtrum , chin , ectodermal dysplasia , hypoplasia , medicine , anatomy , biology , dermatology , genetics , upper lip
Hypohidrotic ectodermal dysplasia ( HED ) is the most prevalent type of ectodermal dysplasia ( ED ). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. The X‐linked recessive ( XL ), autosomal recessive ( AR ), and autosomal dominant ( AD ) types of HED are caused by mutations in the genes encoding ectodysplasin ( EDA 1 ), EDA receptor ( EDAR ), or EDAR ‐associated death domain ( EDARADD ). Patients with HED have a distinctive facial appearance, yet a quantitative analysis of the HED craniofacial phenotype using advanced three‐dimensional (3D) technologies has not been reported. In this study, we characterized craniofacial morphology in subjects with X‐linked hypohidrotic ectodermal dysplasia ( XLHED ) by use of 3D imaging and geometric morphometrics ( GM ), a technique that uses defined landmarks to quantify size and shape in complex craniofacial morphologies. We found that the XLHED craniofacial phenotype differed significantly from controls. Patients had a smaller and shorter face with a proportionally longer chin and midface, prominent midfacial hypoplasia, a more protrusive chin and mandible, a narrower and more pointed nose, shorter philtrum, a narrower mouth, and a fuller and more rounded lower lip. Our findings refine the phenotype of XLHED and may be useful both for clinical diagnosis of XLHED and to extend understanding of the role of EDA in craniofacial development.