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Focal dermal hypoplasia without focal dermal hypoplasia
Author(s) -
ContrerasCapetillo Silvi.,
Lombardi Maria Paola,
PintoEscalante Doris,
Hennekam Raoul C.
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36341
Subject(s) - hypoplasia , phenotype , anatomy , medicine , biology , genetics , gene
Focal dermal hypoplasia (FDH; Goltz–Gorlin syndrome) is an X‐linked dominant disorder affecting mainly tissues of ectodermal and mesodermal origin. The phenotype is characterized by hypoplastic linear skin lesions, eye malformations, hair and teeth anomalies, and multiple limbs malformations. The disorder is caused by PORCN mutations. Here we describe a mother and daughter with FDH in whom a c.938T>G in PORCN was detected. Neither of the two had FDH, but otherwise the phenotype was classical. Focal skin hypoplasia is a hallmark of FDH but the present family indicates that FDH should also be considered in absence of this skin manifestation. © 2013 Wiley Periodicals, Inc.