Toro-Sola M A, Kistenmacher M L, Punnett H H, DiGeorge A M
Clin Genet. 1975 Apr;7(4):325-7. doi: 10.1111/j.1399-0004.1975.tb00336.x.
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.