Article
Clinical features in adult patient with Wolf-Hirschhorn syndrome.
Morphologie : bulletin de l'Association des anatomistes - 1 Jun 2014
Martínez-Quintana E, Rodríguez-González F
Abstract excerpt
The Wolf-Hirschhorn syndrome (WHS) encompasses deletions at the distal part of the short arm of one chromosome 4 (4p16 region). Clinical signs frequently include a typical facial appearance, mental retardation, intrauterine and postnatal growth retardation, hypotonia with decreased muscle bulk and seizures besides congenital heart malformations, midline defects, urinary tract malformations and brain, hearing and...
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