Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata.

Published

Journal Article

Rhizomelic chondrodysplasia punctata is an autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones. Most fetuses with the disorder die in utero or shortly thereafter, and the few that survive suffer severe debility and profound mental retardation. Death ensues in the first decade of life. Relatively few reports discuss antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. We describe the prospective antenatal diagnosis of rhizomelic chondrodysplasia punctata in a fetus with no family history of the disorder, based on the sonographic findings of severe rhizomelic limb shortening in combination with premature ossification and stippling of multiple epiphyses. The ultrasonographic features and differential diagnosis of rhizomelic chondrodysplasia punctata are elaborated.

Full Text

Duke Authors

Cited Authors

  • Hertzberg, BS; Kliewer, MA; Decker, M; Miller, CR; Bowie, JD

Published Date

  • October 1999

Published In

Volume / Issue

  • 18 / 10

Start / End Page

  • 715 - 718

PubMed ID

  • 10511306

Pubmed Central ID

  • 10511306

International Standard Serial Number (ISSN)

  • 0278-4297

Language

  • eng

Conference Location

  • England