[A case of Waardenburg-Klein syndrome observed at the Cotonou NUHC].
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.
Bassabi
S K
SK
Clinique Ophtalmologique, Centre National Hospitalier et Universitaire, Cotonou, République du Bénin.
Medji
A P
AP
Doutetien
C
C
Oussa
G
G
Hounkpe
Y Y
YY
Vodouhe
S J
SJ
Babagbeto
M
M
Latoundji
S
S
D001541:Benin; D002675:Child, Preschool; D003638:Deafness / Q000209:etiology; D006801:Humans; D007498:Iris / Q000002:abnormalities; D008297:Male; D014849:Waardenburg Syndrome / Q000145:classification / Q000175:diagnosis* / Q000235:genetics
Un cas de syndrome de Waardenburg-Klein observé au C.N.H.U. de Cotonou.