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

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.

• Authors: S K Bassabi, A P Medji, C Doutetien, G Oussa, Y Y Hounkpe, S J Vodouhe, M Babagbeto, S Latoundji
• Journal: Journal francais d'ophtalmologie (J Fr Ophtalmol) Vol. 20 Issue 5 Pg. 387-90 ( 1997) ISSN: 0181-5512 [Print] France
• Vernacular Title: Un cas de syndrome de Waardenburg-Klein observé au C.N.H.U. de Cotonou.
• PMID: 9238477 (Publication Type: Case Reports, English Abstract, Journal Article, Review)

Topics

• Benin
• Child, Preschool
• Deafness (etiology)
• Humans
• Iris (abnormalities)
• Male
• Waardenburg Syndrome (classification, diagnosis, genetics)