9p-综合征的神经学方面

Neurologic aspects of the 9p- syndrome.

作者信息

Chaves-Carballo E, Frank L M, Rary J, Reda A W, Shoaibi A

机构信息

Department of Neurology, Eastern Virginia Medical School, Norfolk.

出版信息

Pediatr Neurol. 1985 Jan-Feb;1(1):57-9. doi: 10.1016/0887-8994(85)90012-8.

DOI:10.1016/0887-8994(85)90012-8

PMID:3880392

Abstract

The 9p- syndrome is a chromosomal disorder which is easily recognized by its characteristic craniofacial features. Neurologic abnormalities are evident in all reported cases, the most common of which is severe mental retardation. We add another case with unusual features including glaucoma, seizures, and polydactyly, and review the somatic and neurologic features from 41 previously reported cases.

摘要

9p-综合征是一种染色体疾病，其特征性的颅面特征很容易识别。在所有已报道的病例中，神经学异常都很明显，其中最常见的是严重智力迟钝。我们增加了一例具有不寻常特征的病例，包括青光眼、癫痫发作和多指畸形，并回顾了之前报道的41例病例的躯体和神经学特征。