THE CENTRAL NERVOUS-SYSTEM IN THE APERT SYNDROME

被引:134
作者
COHEN, MM
KREIBORG, S
机构
[1] DALHOUSIE UNIV,FAC MED,DEPT PEDIAT,HALIFAX B3H 3J5,NS,CANADA
[2] ROYAL DENT COLL,DEPT PEDIAT DENT,DK-2100 COPENHAGEN O,DENMARK
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 35卷 / 01期
关键词
Agenesis of the corpus callosum; Craniosynostosis; Encephalocele; Gyral abnormalities; Hydrocephalus; Megalencephaly; Mental retardation; Nonprogressive ventriculomegaly;
D O I
10.1002/ajmg.1320350108
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
In this paper, we present available central nervous system data from our series of patients with the Apert syndrome. Combining our own data with that available in the literature, 30 patients had malformations of the corpus callosum, the limbic structures, or both. Other frequent findings included megalencephaly (7 cases), gyral abnormalities (8 cases), encephalocele (4 cases), pyramidal tract abnormalities (2 cases), hypoplasia of cerebral white matter (4 cases), and heterotopic gray matter (2 cases). Progressive hydrocephalus seems to be uncommon and has frequently been confused with nonprogressive ventriculomegaly in the past. Psychometric evaluations, neurological findings, and neuropathologic reports from the literature are critically reviewed. It is clear that a significant number of patients with the Apert syndrome are mentally retarded. It is suggested that malformations of the central nervous system may be responsible for most cases.
引用
收藏
页码:36 / 45
页数:10
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