New syndrome: autosomal dominant microcephaly and radio-ulnar synostosis

Am J Med Genet. 1994 Jul 1;51(3):266-9. doi: 10.1002/ajmg.1320510319.

Abstract

To date, the combination of microcephaly and radio-ulnar synostosis has not been recognized as a distinct clinical and genetic entity. We report on 4 familial cases with this previously undescribed combination of defects, showing autosomal dominant inheritance (Fig. 1).

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adolescent
  • Adult
  • Child
  • Female
  • Genes, Dominant*
  • Hand Deformities, Congenital / genetics
  • Humans
  • Infant
  • Male
  • Microcephaly / genetics*
  • Middle Aged
  • Pedigree
  • Radius / abnormalities*
  • Supination
  • Syndrome
  • Synostosis / genetics*
  • Ulna / abnormalities*