Bassabi S K, Medji A P, Doutetien C, Oussa G, Hounkpe Y Y, Vodouhe S J, Babagbeto M, Latoundji S
Clinique Ophtalmologique, Centre National Hospitalier et Universitaire, Cotonou, République du Bénin.
J Fr Ophtalmol. 1997;20(5):387-90.
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.
瓦登伯格-克莱因综合征是一种“眼-皮肤-听觉”发育异常疾病,1947年由瓦登伯格首次描述,1950年由克莱因进一步阐述。内眦异位和先天性耳聋是其主要症状。已报道有三种临床类型:I型:呈现全部症状;II型:无内眦异位;III型:不仅有完整的综合征,还伴有上肢的骨-骨-肌发育异常。这个临床病例是一名3.5岁的小男孩,患有先天性耳聋、双侧虹膜色素减退和视网膜白化病,但无内眦异位,被归类为II型瓦登伯格-克莱因综合征。该患者还有第二种明显偶然出现的遗传性疾病:血红蛋白病(Hb AS)。但这似乎是偶然的。