Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts

Fetal Diagn Ther. May-Jun 2005;20(3):171-4. doi: 10.1159/000083899.


Antenatal sonographic diagnosis of rhizomelic chondrodysplasia punctata depends on recognization of the combination of rhizomelic bone shortening and epiphyseal stippling. This is the only report of prenatal ultrasonographic diagnosis of bilateral cataracts in a fetus with rhizomelic chondrodysplasia punctata (type 1). Also, this is the first report of severe rhizomelic limb shortening, and bilateral cataracts prior to the recognization of epiphyseal stippling.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arthrography
  • Cataract / diagnostic imaging*
  • Chondrodysplasia Punctata, Rhizomelic / diagnostic imaging*
  • Female
  • Hip Joint / abnormalities*
  • Hip Joint / diagnostic imaging
  • Humans
  • Limb Deformities, Congenital / diagnostic imaging*
  • Shoulder Joint / abnormalities*
  • Shoulder Joint / diagnostic imaging
  • Ultrasonography, Prenatal*