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


Basbug M. , Serin I. S. , Ozcelik B. , Gunes T. , Akcakus M. , Tayyar M.

FETAL DIAGNOSIS AND THERAPY, vol.20, no.3, pp.171-174, 2005 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 3
  • Publication Date: 2005
  • Doi Number: 10.1159/000083899
  • Title of Journal : FETAL DIAGNOSIS AND THERAPY
  • Page Numbers: pp.171-174

Abstract

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. Copyright (C) 2005 S. Karger AG, Basel.