A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder

J Med Genet. 1998 Jun;35(6):505-7. doi: 10.1136/jmg.35.6.505.

Abstract

An unusual osteochondrodysplasia presenting with lethal neonatal short limbed dwarfism, defective ossification, and punctate calcification within cartilage is presented. The features resemble four cases previously described with Astley-Kendall dysplasia.

Publication types

  • Case Reports

MeSH terms

  • Calcinosis
  • Chondrodysplasia Punctata / diagnostic imaging
  • Chondrodysplasia Punctata / embryology
  • Chondrodysplasia Punctata / genetics*
  • Dwarfism / genetics
  • Female
  • Fetal Death
  • Humans
  • Infant, Newborn
  • Ossification, Heterotopic
  • Osteogenesis Imperfecta / diagnostic imaging
  • Osteogenesis Imperfecta / embryology
  • Osteogenesis Imperfecta / genetics*
  • Radiography