Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia

Rodney K. Beals, Richard G. Weleber

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

A four-generation family with distal arthrogryposis 5 is described. All affected members had limitations of ocular motility and some had ptosis. Restrictive lung disease is a feature in most affected patients in this family. It is possible that this syndrome may be due to a muscle abnormality.

Original languageEnglish (US)
Pages (from-to)67-70
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume131 A
Issue number1
DOIs
StatePublished - Nov 15 2004

Keywords

  • Arthrogryposis
  • Distal arthrogryposis 5
  • Dominant hand contractures
  • Ophthalmoplegia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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