Hypomelanosis of Ito and severe sensorineural deafness

J P Fryns; A M Dereymaeker; H Van Den Berghe

Hypomelanosis of Ito and severe sensorineural deafness

Genet Couns. 1992;3(3):149-51.

Authors

J P Fryns¹, A M Dereymaeker, H Van Den Berghe

Affiliation

¹ Centre for Human Genetics, University of Leuven, Belgium.

PMID: 1388933

Abstract

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / genetics*
Child
Deafness / diagnosis
Deafness / genetics*
Humans
Intellectual Disability / diagnosis
Intellectual Disability / genetics*
Male
Mutation / genetics
Pigmentation Disorders / diagnosis
Pigmentation Disorders / genetics*
Syndrome