马登-沃克综合征。

J Med Genet. 1978 Oct;15(5):366-9. doi: 10.1136/jmg.15.5.366.

The characteristic facies, joint contractures, muscular hypotonia, and growth and developmental delay of the Marden-Walker syndrome were present in a 19-month-old boy. Extensive evaluation of the neuromuscular system failed to identify a specific abnormality. Electromyography was normal with low amplitude. Light and electron microscopy of a skeletal muscle biopsy was normal. Histochemical study of this biopsy material was also normal. The pathogenesis of the syndrome is discussed.

一名19个月大的男孩出现了马登-沃克综合征的典型面容、关节挛缩、肌张力减退以及生长发育迟缓。对神经肌肉系统进行的全面评估未能发现特定异常。肌电图正常，波幅较低。骨骼肌活检的光镜和电镜检查均正常。对该活检材料的组织化学研究也正常。本文讨论了该综合征的发病机制。