与史密斯-勒米-奥皮茨综合征相关的巩膜角膜病变

Sclerocornea associated with the Smith-Lemli-Opitz syndrome.

作者信息

Harbin R L, Katz J I, Frias J L, Rabinowicz I M, Kaufman H E

出版信息

Am J Ophthalmol. 1977 Jul;84(1):72-3. doi: 10.1016/0002-9394(77)90327-0.

Abstract

A 2,000-g infant boy had many features of the Smith-Lemli-Opitz syndrome (prenatal growth deficiency and developmental retardation, microcephaly with unusual facies, hypospadias, and feeding difficulties) as well as sclerocornea. The association of this rare eye finding with this rare congenital syndrome is unique. Successful penetrating keratoplasty was performed in one eye at 8 months of age.

摘要

一名体重2000克的男婴具有史密斯-利姆利-奥皮茨综合征的许多特征（产前生长发育迟缓、小头畸形伴特殊面容、尿道下裂和喂养困难）以及角膜硬化。这种罕见的眼部表现与这种罕见的先天性综合征的关联是独一无二的。患儿8个月大时，对一只眼睛成功实施了穿透性角膜移植术。