Mesomelic limb shortness: a previously unreported autosomal recessive type

Am J Med Genet. 1993 Oct 1;47(5):788-92. doi: 10.1002/ajmg.1320470537.

Abstract

We report on sibs, the offspring of a consanguineous mating, whose mesomelic shortness and bowing of limbs with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly represents a previously apparently unreported syndrome. The radiological findings are discussed, particularly with regard to the main known diagnostic possibilities.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Cleft Palate / genetics
  • Consanguinity
  • Female
  • Fingers / abnormalities
  • Genes, Recessive*
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital*
  • Male
  • Mandible / abnormalities
  • Syndrome