An autosomal dominant multiple pterygium syndrome

J Med Genet. 1988 Feb;25(2):96-103. doi: 10.1136/jmg.25.2.96.

Abstract

Three sibs and their mother with features of a multiple pterygium syndrome are reported. Inheritance in this family is consistent with autosomal dominant inheritance with great variation in severity between affected subjects. The importance of examining other family members closely in cases of multiple pterygium is emphasised.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Female
  • Genes, Dominant*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Pedigree
  • Pterygium / genetics*
  • Scoliosis / genetics*
  • Syndactyly / genetics
  • Syndrome