• Media type: E-Article
  • Title: Mesomelic campomelia, polydactyly and Dandy–Walker cyst in siblings
  • Contributor: Guschmann, Michael; Horn, Denise; Entezami, Michael; Urban, Maik; Hänel, Susanne; Kunze, Jürgen; Vogel, Martin
  • imprint: Wiley, 2001
  • Published in: Prenatal Diagnosis
  • Language: English
  • DOI: 10.1002/pd.70
  • ISSN: 1097-0223; 0197-3851
  • Keywords: Genetics (clinical) ; Obstetrics and Gynecology
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title><jats:p>The present report describes two fetuses, one female and one male, with thus far undescribed skeletal malformations. The mother was a gravida 2, para 0. Both pregnancies were terminated in the second trimester because of multiple congenital anomalies diagnosed ultrasonographically resembling a short rib‐polydactyly syndrome. Both fetuses were found to have postaxial hexadactyly of the hands and feet, marked bilateral campomelia of the forearm and shank bones, and a Dandy–Walker cyst. In addition, the fourth ventricle was dilated in the first sibling and the second sibling had an inverse intestinal malrotation. A literature search failed to reveal similar observations. Copyright © 2001 John Wiley &amp; Sons, Ltd.</jats:p>