儿童 Schwartz-Jampel 综合征。
Schwartz Jampel syndrome in children.
机构信息
Division of Pediatric Neurology, Department of Pediatrics, 3rd floor, Teaching Block, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110 029, India.
出版信息
J Clin Neurosci. 2013 Feb;20(2):313-7. doi: 10.1016/j.jocn.2012.01.057. Epub 2012 Dec 7.
PMID:23219824
Abstract
Schwartz Jampel syndrome is a rare neuromuscular disorder with autosomal recessive inheritance characterized by myotonia, distinctive facial features including blepharospasm and a puckered chin, short stature and skeletal dysplasia. We report six Indian children with this disorder presenting with different clinical manifestations.
摘要
施瓦茨-詹佩尔综合征是一种罕见的神经肌肉疾病，呈常染色体隐性遗传，其特征为肌强直、包括眼睑痉挛和噘嘴在内的独特面部特征、身材矮小和骨骼发育不良。我们报告了 6 例具有不同临床表现的该病印度患儿。
Zotero 插件