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伴有白内障和白癜风的多发性骨骺发育不良的假性软骨发育不全变异型

Pseudo-achondroplastic variant of multiple epiphyseal dysplasia with cataract and vitiligo.

作者信息

Sharma P, Angra S K, Khurana A

出版信息

Ann Ophthalmol. 1987 Feb;19(2):56-9.

PMID:3566024
Abstract

Multiple epiphyseal dysplasias may present as congenital or late-onset (tarda) forms or as the variant pseudo-achondroplastic type. While the association between cataract and skin anomalies is well known in the congenital type, it has not been reported for the late-onset type of multiple epiphyseal dysplasia. A 5 1/2-year-old child with the pseudo-achondroplastic variant of multiple epiphyseal dysplasia has been observed to have the unusual association of cataracts and vitiligo, a condition which lacked previous documentation.

摘要

多发性骨骺发育不良可表现为先天性或迟发型(晚发型),或为假性软骨发育不全型变异。虽然先天性多发性骨骺发育不良中白内障与皮肤异常之间的关联已为人熟知,但迟发型多发性骨骺发育不良的相关情况尚未见报道。一名5岁半患有多发性骨骺发育不良假性软骨发育不全型变异的儿童被观察到存在白内障与白癜风这一罕见关联,此前并无关于该病症的记录。

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