Hypomelanosis of Ito and severe sensorineural deafness.
In this report we describe an 8-year-old boy of Algerian origin with profound sensorineural deafness and skin pigmentation anomalies consistent with the diagnosis of hypomelanosis of Ito. On the basis of this observation the etiologic heterogeneity of this condition is discussed.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Dereymaeker
A M
AM
Van Den Berghe
H
H
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome