智力缺陷、行为改变以及过度生长综合征中的中枢神经系统异常。

Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes.

作者信息

Cohen M Michael

机构信息

Dalhousie University, Halifax, B3H 3J5 Nova Scotia, Canada.

出版信息

Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):49-56. doi: 10.1002/ajmg.c.10013.

DOI:10.1002/ajmg.c.10013

PMID:12561058

Abstract

Mental deficiency, alterations in performance, and central nervous system (CNS) abnormalities are discussed in the following overgrowth syndromes: Sotos syndrome, Weaver syndrome, Proteus syndrome, neurofibromatosis type 1, fragile X syndrome, syndromes with neonatal hypoglycemia, Simpson-Golabi-Behmel syndrome, hemihyperplasia, Sturge-Weber syndrome, Bannayan-Riley-Ruvalcaba/Cowden syndrome, macrocephaly-autism syndrome, PEHO syndrome, chromosomal syndromes, and other miscellaneous syndromes.

摘要

以下过度生长综合征中会讨论智力缺陷、行为改变和中枢神经系统（CNS）异常：索托斯综合征、韦弗综合征、变形综合征、1型神经纤维瘤病、脆性X综合征、伴有新生儿低血糖的综合征、辛普森-戈拉比-贝梅尔综合征、半身肥大、斯特奇-韦伯综合征、班纳扬-莱利-鲁瓦尔卡瓦/考登综合征、巨头畸形-自闭症综合征、PEHO综合征、染色体综合征以及其他杂类综合征。