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

N. Linder, I. Mathot, A. Livoff, J. Glass, I. Bornstein, E. Gross, S. Yatsiv, A. Sommer

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)377-379
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume39
Issue number4
DOIs
StatePublished - 1991
Externally publishedYes

Keywords

  • Marden-Walker Syndrome
  • blepharophimosis
  • contractures
  • myopathy

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