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无睑裂闭合不全的隐眼并指(趾)综合征。

Cryptophthalmos--syndactyly syndrome without cryptophthalmos.

作者信息

Koenig R, Spranger J

出版信息

Clin Genet. 1986 May;29(5):413-6. doi: 10.1111/j.1399-0004.1986.tb00513.x.

Abstract

Based on a personal observation and a review of the literature five cases with the so-called cryptophthalmos-syndactyly syndrome but without cryptophthalmos are presented. It appears that eye lesions are non-obligatory components of a pleomorphic condition which may be overlooked in the absence of the name-giving anomaly. The diagnosis of the cryptophthalmos-syndactyly syndrome must be considered in patients with a combination of acrofacial and urogenital malformations with or without cryptophthalmos.

摘要

基于个人观察和文献回顾,本文报告了5例所谓的隐眼并指综合征但无隐眼的病例。看来眼部病变并非多形性疾病的必要组成部分,在缺乏命名异常的情况下可能会被忽视。对于合并或不合并隐眼的肢端面部和泌尿生殖系统畸形患者,必须考虑隐眼并指综合征的诊断。

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