Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?

Am J Med Genet. 1996 Dec 18;66(3):265-8. doi: 10.1002/(SICI)1096-8628(19961218)66:3<265::AID-AJMG5>3.0.CO;2-O.

Abstract

A new type of osteodysplastic primordial dwarfism is delineated in a 5-year-old female child with severe growth retardation of prenatal onset, gross skeletal changes, a non-Seckel facial phenotype, and presumed autosomal recessive inheritance.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Bone and Bones / abnormalities*
  • Child, Preschool
  • Consanguinity
  • Craniofacial Abnormalities / diagnostic imaging*
  • Dwarfism* / diagnostic imaging
  • Female
  • Genes, Recessive
  • Humans
  • Radiography