Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet in male patients

Am J Med Genet. 1993 Oct 1;47(5):707-9. doi: 10.1002/ajmg.1320470524.

Abstract

We report on 2 unrelated Brazilian boys with the syndrome of autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet. This is the first report of male patients.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adolescent
  • Brazil
  • Clubfoot / genetics*
  • Genes, Recessive
  • Growth Disorders / genetics*
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant
  • Male
  • Mandible / abnormalities*
  • Pierre Robin Syndrome / genetics*
  • Syndrome
  • Tooth Abnormalities / genetics