Literature DB >> 3372784

Focal facial dermal dysplasia: bitemporal lesions resembling aplasia cutis congenita.

M L Magid1, J S Prendiville, N B Esterly.   

Abstract

Focal facial dermal dysplasia is the preferred designation for an inherited disorder characterized by congenital scarlike lesions on the temples. Review of the literature reveals a spectrum of associated facial anomalies that cannot be clearly divided into discrete clinical syndromes. To reconcile the apparent genetic diversity of previously reported cases, we postulate autosomal dominant inheritance with incomplete penetrance. An isolated case of a 4 1/2-month-old infant with typical bitemporal markings and otherwise normal facies is described.

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Year:  1988        PMID: 3372784     DOI: 10.1016/s0190-9622(88)70125-5

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  1 in total

1.  Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.

Authors:  Turgut Tukel; Drazen Šošić; Lihadh I Al-Gazali; Mónica Erazo; Jose Casasnovas; Hector L Franco; James A Richardson; Eric N Olson; Carmen L Cadilla; Robert J Desnick
Journal:  Am J Hum Genet       Date:  2010-08-13       Impact factor: 11.025

  1 in total

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