AN OCULOCEREBRAL SYNDROME WITH AMINOACIDURIA AND KERATOSIS FOLLICULARIS

被引：15

作者：

ADLER, RC

NYHAN, WL

机构：

[1] University of Miami School of Medicine, Jackson Memorial Hospital, Miami, FL

来源：

JOURNAL OF PEDIATRICS | 1969年 / 75卷 / 03期

关键词：

D O I：

10.1016/S0022-3476(69)80270-2

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 4-year-old Negro boy was studied in whom there were keratotic follicular skin lesions, corneal clouding, sparseness of the eye lashes, and absence of the lateral portions of the eyebrows. These are the features of keratosis follicularis spinulosa decalvans. In addition, he had congenital glaucoma, a lenticular cataract, mental retardation, arachnodactyly, and aminoaciduria. This association has not previously been reported. © 1969 The C. V. Mosby Company.

引用

页码：436 / &

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