Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips

J Med Genet. 2003 Mar;40(3):201-7. doi: 10.1136/jmg.40.3.201.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / genetics
  • Bone Diseases, Developmental / pathology*
  • Child
  • Epiphyses / abnormalities
  • Family Health
  • Female
  • Femur / abnormalities
  • Genes, Recessive / genetics
  • Growth Disorders / genetics
  • Growth Disorders / pathology
  • Humans
  • Infant
  • Limb Deformities, Congenital / diagnostic imaging
  • Limb Deformities, Congenital / genetics
  • Limb Deformities, Congenital / pathology*
  • Male
  • Pedigree
  • Radiography