Article
Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2005
Iwanowski P S, Stengel-Rutkowski S, Anderlik L, Pilch J, Midro A T
Abstract excerpt
Wolf-Hirschhorn syndrome (WHS) is a rare genetic condition with characteristic facial traits, organ malformations, functional impairment and developmental delay due to partial short arm monosomy of chromosome 4. Although several hundreds of cases have been published to date, a systematic collection of its clinical symptoms and anthropological traits is missing in the literature, and reports on abilities and needs...
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