白内障、听力丧失和高胆固醇血症。

Cataract, hearing loss and hypercholesterolemia.

作者信息

Nucci P, Mets M B

机构信息

Department of Ophthalmology, University of Milan, Scientific Institute S. Raffaele Hospital, Italy.

出版信息

Acta Ophthalmol (Copenh). 1990 Dec;68(6):739-42. doi: 10.1111/j.1755-3768.1990.tb01705.x.

DOI:10.1111/j.1755-3768.1990.tb01705.x

PMID:2080709

Abstract

A new syndrome of congenital cataract, hearing loss, hypercholesterolemia, spasticity of the lower extremities, and perhaps mental retardation, is described. Manifestation in two brothers with no other affected family members suggests an autosomal recessive pattern of inheritance. A discussion of the differential diagnosis of oculo-auditory syndromes is presented.

摘要

本文描述了一种新的综合征，其特征为先天性白内障、听力丧失、高胆固醇血症、下肢痉挛，可能还伴有智力发育迟缓。在两名兄弟中出现该综合征且无其他受影响家庭成员，提示为常染色体隐性遗传模式。本文还对眼-听觉综合征的鉴别诊断进行了讨论。