Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type

Ultrasound Obstet Gynecol. 1996 Nov;8(5):350-4. doi: 10.1046/j.1469-0705.1996.08050350.x.


Chondrodysplasia punctata, a skeletal dysplasia with craniofacial dysmorphism and joint contractures can occur with rhizomelia, mesomelia or both. The rhizomelic form is generally lethal, whereas one form of mesomelic chondrodysplasia punctata has been described that is associated with a presumably normal lifespan and intelligence. We describe a case of a fetus suspected prenatally of having rhizomelic chondrodysplasia punctata, who was subsequently diagnosed at 1.5 years of age to have the tibia-metacarpal form of chondrodysplasia punctata. The prenatal sonographic findings of second-trimester micromelic bone shortening and third-trimester proximal femoral stippling may be present in the rhizomelic form but are not specific to this condition.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Chondrodysplasia Punctata / diagnosis
  • Chondrodysplasia Punctata / diagnostic imaging*
  • Chondrodysplasia Punctata / physiopathology
  • Female
  • Fetal Diseases / diagnostic imaging
  • Follow-Up Studies
  • Gestational Age
  • Humans
  • Metacarpus / abnormalities
  • Metacarpus / diagnostic imaging
  • Pregnancy
  • Pregnancy Complications / diagnostic imaging*
  • Pregnancy Complications / physiopathology
  • Pregnancy Outcome*
  • Tibia / abnormalities
  • Tibia / diagnostic imaging
  • Ultrasonography, Prenatal*