Focal dermal hypoplasia in a male

Focal dermal hypoplasia (FDH) is a rare mesoectodermal dysplasia syndrome characterized by cutaneous, skeletal, dental, ocular and soft-tissue defects. An X-linked dominant mode of inheritance with lethality in male subjects has been proposed. Only around 30 cases of FDH have been reported in male s...

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Detalles Bibliográficos
Autores principales: George, Leni, Agrawal, Nisha, Hogan, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4211487/
https://www.ncbi.nlm.nih.gov/pubmed/25386262
http://dx.doi.org/10.4081/dr.2011.e7
Descripción
Sumario:Focal dermal hypoplasia (FDH) is a rare mesoectodermal dysplasia syndrome characterized by cutaneous, skeletal, dental, ocular and soft-tissue defects. An X-linked dominant mode of inheritance with lethality in male subjects has been proposed. Only around 30 cases of FDH have been reported in male subjects. Live born affected males are mosaic for mutations in PORCN gene . We present the mosaic pattern of FDH in a young boy.

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