Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.
Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.
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DOI：
10.1002/mgg3.84
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发表时间：
2014-09
影响因子：
2
通讯作者：
Klein, Ophir D
中科院分区：
文献类型：
--
作者：
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;Hallgrimsson, Benedikt;Jheon, Andrew H;Klein, Ophir D
少汗性外胚层发育不良(HED)是最常见的外胚层发育不良(ED)类型。ED是一组综合征的总称，其特征是外胚层结构缺失或畸形，包括皮肤、头发、汗腺和牙齿。X连锁隐性遗传病(XL)、常染色体隐性遗传病(AR)和常染色体显性遗传病(AD)是由编码胞外营养不良蛋白(EDA1)、EDA受体(EDAR)或EDAR相关死亡结构域(EDARADD)的基因突变引起的。HED患者具有独特的面部外观，但使用先进的三维(3D)技术对HED头面部表型进行定量分析尚未见报道。在这项研究中，我们使用3D成像和几何形态计量学(GM)来描述X连锁少汗性外胚叶发育不良(XLHED)受试者的头面部形态，几何形态计量学(GM)是一种使用定义的地标来量化复杂颅面形态的大小和形状的技术。我们发现XLHED患者的头面部表型与对照组明显不同。患者面部较小较短，下巴和中面按比例较长，面中部发育不全，下巴和下颌更突出，鼻子更窄和更尖，人中更短，嘴巴更窄，下唇更饱满和圆润。我们的发现提炼了XLHED的表型，可能有助于XLHED的临床诊断和扩大对EDA在颅面发育中的作用的理解。
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 (EDA1), 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.