The Marden-Walker syndrome.
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.
D003286:Contracture / Q000235:genetics*; D004576:Electromyography; D005145:Face / Q000002:abnormalities*; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D007596:Joints / Q000002:abnormalities*; D008297:Male; D009132:Muscles / Q000503:physiopathology; D010641:Phenotype; D013577:Syndrome