Focal dermal hypoplasia without focal dermal hypoplasia

American Journal of Medical Genetics. Part a
Silvina N Contreras-CapetilloRaoul C Hennekam

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.

References

Dec 1, 1990·Pediatric Dermatology·R W Goltz
Mar 1, 1990·Journal of Medical Genetics·I K TempleD J Atherton
Jan 1, 1974·Clinical Genetics·R Ruiz-MaldonadoM Milonas de Montiel
Dec 1, 1995·The British Journal of Dermatology·S Kore-EdaS Imamura
Dec 1, 1962·Archives of Dermatology·R W GOLTZH G RAVITS
Jun 5, 2007·Nature Genetics·Xiaoling WangIgnatia B Van den Veyver
Jun 5, 2007·Nature Genetics·Karl-Heinz GrzeschikRudolf Happle
Jul 10, 2009·Journal of Medical Genetics·S M MaasRaoul C M Hennekam
Apr 8, 2011·Human Mutation·Maria Paola LombardiRaoul C Hennekam

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Citations

Mar 24, 2016·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Oluyemisi A Adeyemi-FowodeJennifer E Dietrich
Jan 23, 2016·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Rudolf Happle
Jul 1, 2017·Journal of Medical Genetics·Beom Hee LeeRobert J Desnick

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