[The Goltz-Gorlin syndrome in a male child].
A one-year-old boy with focal dermal hypoplasia (Goltz syndrome) is reported in this paper. Numerous malformations (coloboma of the iris, syndactylia, pyelon and urether duplex 1. sin, cystouretheral reflux, hypospadia), typical changes on the skin, numerous papillomas and psychomotoric retardation have been found. The disease has been proved by the skin-biopsy finding. Our patient, unlike so far described affected persons differed in having a severe papillomatosis of the larynx which necessitated the performance of tracheotomy at the age of one year. Described patient represents a fresh mutation in the family.
Begović
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D004476:Ectodermal Dysplasia / Q000473:pathology; D005489:Focal Dermal Hypoplasia / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male
Goltz-Gorlinov sindrom u muskog djeteta.