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Congenital myopathy with oculo-facial abnormalities (Marden-Walker syndrome).

Abstract
Marden-Walker syndrome present in the neonatal period is characterized by oculo-facial abnormalities, congenital myopathy, and contractures. A newborn infant with a similar pattern of anomalies is reported, and further evidence for autosomal recessive inheritance as well as new neuropathological findings are included.
AuthorsN Linder, I Mathot, A Livoff, J Glass, I Bornstein, E Gross, S Yatsiv, A Sommer
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 39 Issue 4 Pg. 377-9 (Jun 15 1991) ISSN: 0148-7299 [Print] UNITED STATES
PMID1877612 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)
Topics
  • Contracture (congenital, genetics)
  • Eye Abnormalities (genetics)
  • Facial Bones (abnormalities)
  • Female
  • Genes, Recessive (genetics)
  • Humans
  • Infant, Newborn
  • Muscular Diseases (congenital, genetics)
  • Syndrome

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