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智力障碍、白内障、肌肉萎缩和骨骼异常综合征:第二例报告。

The syndrome of mental handicap, cataracts, muscle wasting and skeletal abnormalities: report of a second case.

作者信息

Collacott R A, O'Malley B P, Young I D

出版信息

J Ment Defic Res. 1986 Sep;30 ( Pt 3):301-8. doi: 10.1111/j.1365-2788.1986.tb01324.x.

Abstract

A severely mentally handicapped Caucasian male with cataracts, deafness, distal muscle wasting and skeletal abnormalities, including calcification of the pinnae, is described. The findings in this patient strongly resemble those in a male described in 1982 by Primrose, and it suggested that this unusual pattern of abnormalities constitutes a discrete entity, which we propose should be known as 'Primrose syndrome'.

摘要

本文描述了一名患有白内障、耳聋、远端肌肉萎缩和骨骼异常(包括耳廓钙化)的重度精神发育迟滞的白种男性。该患者的表现与Primrose在1982年描述的一名男性极为相似,这表明这种异常的独特模式构成了一种独立的病症,我们提议将其称为“Primrose综合征”。

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