OCULODENTODIGITAL DYSPLASIA SYNDROME ASSOCIATED WITH ABNORMAL CEREBRAL WHITE MATTER

被引：46

作者：

GUTMANN, DH

ZACKAI, EH

MCDONALDMCGINN, DM

FISCHBECK, KH

KAMHOLZ, J

机构：

[1] HOSP UNIV PENN,DEPT NEUROL,PHILADELPHIA,PA 19104

[2] CHILDRENS HOSP PHILADELPHIA,DIV CLIN GENET,PHILADELPHIA,PA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 41卷 / 01期

关键词：

HEREDITARY SPASTIC PARAPARESIS; LEUKODYSTROPHY;

D O I：

10.1002/ajmg.1320410106

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Oculodentodigital dysplasia (ODDD) syndrome is an uncommon inherited disorder with eye and facial abnormalities, syndactyly, and defects in tooth enamel. Some of the previously reported patients with ODDD syndrome also manifested spastic quadriparesis. We describe a patient with sporadic ODDD syndrome referred for evaluation of progressive spastic paraparesis. Magnetic resonance imaging of the brain demonstrated abnormal white matter, which suggests an explanation for the observed spastic paraparesis.

引用

页码：18 / 20

页数：3