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The Marden-Walker syndrome.

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 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.
AuthorsC R King, E Magenis
JournalJournal of medical genetics (J Med Genet) Vol. 15 Issue 5 Pg. 366-9 (Oct 1978) ISSN: 0022-2593 [Print] ENGLAND
PMID739527 (Publication Type: Case Reports, Journal Article)
Topics
  • Contracture (genetics)
  • Electromyography
  • Face (abnormalities)
  • Growth Disorders (genetics)
  • Humans
  • Infant
  • Joints (abnormalities)
  • Male
  • Muscles (physiopathology)
  • Phenotype
  • Syndrome

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