The Marden-Walker syndrome.
- 1 October 1978
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 15 (5) , 366-369
- https://doi.org/10.1136/jmg.15.5.366
Abstract
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 microscopy and EM of a skeletal muscle biopsy was normal. Histochemical study of this biopsy material was also normal. The pathogenesis of the syndrome is discussed.Keywords
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