Article
[Focal dermal hypoplasia (Goltz syndrome) in the neonate: report of a case presenting with cleft lip and palate].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Feb 2012
Nagalo K, Laberge J-M, Nguyen V-H, Laberge-Caouette L, Turgeon J
Abstract excerpt
Focal dermal hypoplasia (Goltz syndrome) is a rare congenital dysplasia of the mesoectodermal derived tissues. It is an X-linked inheritance syndrome caused by mutations in the PORCNgene mapped on Xp11.23. The condition is characterized by cutaneous lesions distributed in linear areas associated with diverse congenital deformities. Given the rarely described neonatal features, we report a case of Goltz syndrome...
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