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一种以玻璃体视网膜变性、腭裂和上颌骨发育不全为主的显性遗传综合征(切尔文科综合征)。

A dominantly inherited syndrome of hyaloideoretinal degeneration, cleft palate and maxillary hypoplasia (Cervenka syndrome).

作者信息

Cohen M M, Knobloch W H, Gorlin R J

出版信息

Birth Defects Orig Artic Ser. 1971 Jun;7(7):83-6.

PMID:5173248
Abstract

A dominantly inherited syndrome of myopia with hyaloidopathy, retinal detachment, cleft palate and flattening of the midface is described. The finding of genua valga, hip joint deformity, hypospadias and mental retardation noted in a few cases suggests that this may be a more complex dysmorphogenetic syndrome than is currently evident. It is not known at the present time whether hereditary progressive arthro-ophthalmopathy (Stickler syndrome) and the Cervenka syndrome are identical or different formal genesis syndromes.

摘要

描述了一种具有玻璃体病变、视网膜脱离、腭裂和中面部扁平的显性遗传性近视综合征。少数病例中出现的膝外翻、髋关节畸形、尿道下裂和智力迟钝提示,这可能是一种比目前所认识到的更为复杂的畸形发生综合征。目前尚不清楚遗传性进行性关节眼病(斯蒂克勒综合征)和切尔文科综合征是相同还是不同的形式发生综合征。

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