The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review

J Med Genet. 1993 Jan;30(1):62-4. doi: 10.1136/jmg.30.1.62.

Abstract

A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Consanguinity
  • Ectromelia / genetics*
  • Female
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Iraq
  • Male
  • Mullerian Ducts / abnormalities*
  • Pelvic Bones / abnormalities*
  • Syndrome