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.
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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)
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Topics |
- Benin
- Child, Preschool
- Deafness
(etiology)
- Humans
- Iris
(abnormalities)
- Male
- Waardenburg Syndrome
(classification, diagnosis, genetics)
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