Article
Hypomelanosis of Ito and severe sensorineural deafness.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1992
Fryns J P, Dereymaeker A M, Van Den Berghe H
Abstract excerpt
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.
Topics
- Abnormalities, Multiple
- Child
- Deafness
- Humans
- Intellectual Disability
- Male
- Mutation
- Pigmentation Disorders
- Syndrome