伴有眼面部和骨骼异常的先天性肌病。
Congenital myopathy with oculo-facial and skeletal abnormalities.
作者信息
Ferguson S D, Young I D, Teoh R
出版信息
Dev Med Child Neurol. 1981 Apr;23(2):237-42. doi: 10.1111/j.1469-8749.1981.tb02447.x.
Abstract
A case report is presented of a boy with congenital myopathy associated with oculo-facial and skeletal abnormalities. The relationship of this case to patients with the Schwartz-Jampel and Marden-Walker syndromes is discussed.
摘要
本文报告一例患有先天性肌病并伴有眼面部和骨骼异常的男孩病例。讨论了该病例与施瓦茨 - 詹佩尔综合征和马登 - 沃克综合征患者之间的关系。
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