一名患有哈勒曼-施特雷夫综合征患者的母亲、姐姐和儿子患有先天性白内障：巧合还是线索？

Congenital cataracts in mother, sister, and son of a patient with Hallermann-Streiff syndrome: coincidence or clue?

作者信息

Harrod M J, Friedman J M

机构信息

Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas.

出版信息

Am J Med Genet. 1991 Dec 15;41(4):500-2. doi: 10.1002/ajmg.1320410424.

DOI:10.1002/ajmg.1320410424

PMID:1776644

Abstract

The son of a patient with Hallermann-Streiff Syndrome (HSS) was found to have congenital cataracts, but no other findings of the syndrome. Similar findings were reported in the patient's mother and sister. The significance of this observation is uncertain.

摘要

一名患有哈勒曼-施特雷夫综合征（HSS）患者的儿子被发现患有先天性白内障，但无该综合征的其他症状。患者的母亲和姐姐也有类似发现。这一观察结果的意义尚不确定。