Autosomal-dominant inheritance of distal arthrogryposis

M. K. McCormack, P. J. Coppola-McCormack, M. Lee

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

The authors report on a 32-year-old Italian man, his 5-year-old daughter, and his 3.5-year-old son, all of whom had congenital joint contractures. Each has severe ulnar deviation of fingers and soft-tissue contractures of both hands; and each had bilateral clubfeet at birth. The father is short in stature, as are the children, who also have delayed carpal ossification. The findings in this family suggest autosomal-dominant inheritance of the condition. The clinical features are consistent with the condition currently referred to as 'distal' arthrogryposis.

Original languageEnglish (US)
Pages (from-to)163-169
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume6
Issue number2
DOIs
StatePublished - Jan 1 1980
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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