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持续性增生性原发性玻璃体病变和隐性眼牙骨发育不良。

Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia.

作者信息

Traboulsi E I, Faris B M, Der Kaloustian V M

出版信息

Am J Med Genet. 1986 May;24(1):95-100. doi: 10.1002/ajmg.1320240111.

DOI:10.1002/ajmg.1320240111
PMID:3085500
Abstract

We report on a patient with oculo-dento-osseous dysplasia and bilateral persistence of the hyaloid system. Autosomal recessive inheritance may be the cause of this patient's condition since she was born to unaffected first-cousin parents. Ocular findings in the recessive variety of this syndrome seem to be more severe than those in the more common dominant form.

摘要

我们报告了一例患有眼-牙-骨发育异常及双侧玻璃体系统永存的患者。常染色体隐性遗传可能是该患者病情的病因,因为她的父母是表亲且均未患病。该综合征隐性类型的眼部表现似乎比更常见的显性类型更为严重。

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