Waardenburg syndrome.
Waardenburg syndrome (WS) is caused by autosomal dominant mutations, and is characterized by pigmentary anomalies and various defects of neural crest derived tissues. We report a very interesting case of type 1 WS (WS 1) in an adult who presented all the symptoms characteristic of this syndrome. One particularly important clinical feature of WS is congenital hearing loss, which may severely handicap a child. A careful clinical description is useful to differentiate between various types of WS and other associated auditory-pigmentary syndromes. Type WS 1, characterized by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene.
Konno
P
P
Tallinn Hospital of Skin Diseases, Estonia.
Silm
H
H
D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D014849:Waardenburg Syndrome / Q000145:classification / Q000175:diagnosis*