张力减退
医学
基底神经节
小头畸形
发育不良
无意识
小脑蚓部
舞蹈病
脑萎缩
舞蹈病
萎缩
病理
心理学
解剖
肌张力障碍
儿科
小脑
内分泌学
疾病
生物
精神科
中枢神经系统
遗传学
基因
作者
Anjana L. Pettigrew,Laird G. Jackson,David H. Ledbetter
出处
期刊:American journal of medical genetics
[Wiley]
日期:1991-02-01
卷期号:38 (2-3): 200-207
被引量:50
标识
DOI:10.1002/ajmg.1320380206
摘要
We report on a 4 generation family of individuals with an X-linked form of mental retardation involving 9 affected males and 5 obligate carrier females. Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to Hallervorden-Spatz disease. Of the 5 known heterozygotes, 3 are dull intellectually, and one of the 3 developed a "presenile dementia." At autopsy she had iron deposition and neuroaxonal dystrophy in the basal ganglia and atrophy of the cerebral cortex. Although the clinical findings among relatives are variable, we conclude that this is a distinct, previously unrecognized X-linked mental retardation syndrome.
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