Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance

J Med Genet. 1993 Jan;30(1):65-9. doi: 10.1136/jmg.30.1.65.

Abstract

A third family with two Italian neonates affected with limb/pelvis-hypoplasia/aplasia syndrome is reported. The disorder shows autosomal recessive inheritance.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Ear / abnormalities
  • Ectromelia / genetics*
  • Facial Expression
  • Female
  • Femur / abnormalities
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Italy
  • Male
  • Pelvic Bones / abnormalities*
  • Syndrome