title: Focal dermal hypoplasia without focal dermal hypoplasia.
abstract: 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.
authors.affiliation: Departamento de Genética, Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Mérida, Yucatán, México.
authors.forename: Silvina N
authors.initials: SN
authors.lastname: Contreras-Capetillo
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Lombardi
authors.forename: Doris
authors.initials: D
authors.lastname: Pinto-Escalante
authors.forename: Raoul C
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D000217:Acyltransferases; D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D011859:Radiography; D012867:Skin / Q000473:pathology
chemical_list: D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human
keywords: Goltz-Gorlin syndrome; PORCN; focal dermal hypoplasia; variability