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J Fr Ophtalmol. 1997;20(5):387-90.

[A case of Waardenburg-Klein syndrome observed at the Cotonou NUHC].

[Article in French]

Author information

  • 1Clinique Ophtalmologique, Centre National Hospitalier et Universitaire, Cotonou, République du Bénin.

Abstract

Waardenburg-Klein syndrome is an "Oculo-dermato-auditif" dysplasia described in 1947 by Waardenburg and by Klein in 1950. Canthus dystopia and congenital deafness are the main symptoms. Three clinical types have been reported: type I: presents the full symptomatology; type II: without canthus dystopia; type III: presents not only the complete syndrome but also an orthro-osteomyodysplasia of the upper limbs. This clinical case in a small 3.5-year-old boy with congenital deafness, bilateral iris hypochromia and retina albinism without canthus dystopia was classed as type II Waardenburg-Klein syndrome. The patient had a second apparently fortuitous hereditary affection: hemoglobinopathy (Hb AS). But this seems to be fortuitous.

PMID:
9238477
[PubMed - indexed for MEDLINE]
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