Literature DB >> 1126054

Focal dermal hypoplasia symdrome in a male.

M A Toro-Sola, M L Kistenmacher, H H Punnett, A M DiGeorge.   

Abstract

Focal dermal hypoplasia (Goltz syndrome) is characterized by a pathognomonic abnormality of the skin in association with other congenital defects. There are only seven males among the 52 reported cases. We report the eighth case in a male and evaluate the possible genetic origin of the syndrome. A critical review of the literature provides no evidence for the previously accepted single gene mode of inheritance.

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Year:  1975        PMID: 1126054     DOI: 10.1111/j.1399-0004.1975.tb00336.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  5 in total

1.  Goltz syndrome and PORCN mosaicism.

Authors:  David A Stevenson; Meghan Chirpich; Yvonne Contreras; Heather Hanson; Karin Dent
Journal:  Int J Dermatol       Date:  2014-07-11       Impact factor: 2.736

2.  Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin syndrome).

Authors:  J Kunze; K Heyne; H R Wiedemann
Journal:  Eur J Pediatr       Date:  1979-06-28       Impact factor: 3.183

3.  [Focal dermal hypoplasia with apocrine nevi and striation of bones (author's transl)].

Authors:  F Vakilzadeh; R Happle; P Peters; E Macher
Journal:  Arch Dermatol Res       Date:  1976-08-27       Impact factor: 3.017

4.  Osteopathia striata and focal dermal hypoplasia.

Authors:  D Knockaert; J Dequeker
Journal:  Skeletal Radiol       Date:  1979       Impact factor: 2.199

5.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

  5 in total

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