[A case of Waardenburg-Klein syndrome observed at the Cotonou NUHC]. / Un cas de syndrome de Waardenburg-Klein observé au C.N.H.U. de Cotonou.
J Fr Ophtalmol
; 20(5): 387-90, 1997.
Article
em Fr
| MEDLINE
| ID: mdl-9238477
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Waardenburg
Tipo de estudo:
Etiology_studies
Limite:
Child, preschool
/
Humans
/
Male
País/Região como assunto:
Africa
Idioma:
Fr
Revista:
J Fr Ophtalmol
Ano de publicação:
1997
Tipo de documento:
Article