Mesomelic campomelia,polydactyly and Dandy–Walker cyst in siblings |
| |
| Authors: | Michael Guschmann Denise Horn Michael Entezami Maik Urban Susanne Hänel Jürgen Kunze Martin Vogel |
| |
| Affiliation: | 1. Abteilung für Paidopathologie und Placentologie, Institute für Pathologie, Charité, Campus Virchow-Klinikum, Medizinische Fakultät der Humboldt-Universität zu Berlin, Berlin, Germany;2. Institut für Humangenetik, Charité, Campus-Virchow, Medizinische Fakultät der Humboldt Universität zu Berlin, Berlin, Germany;3. Klinikum Benjamin Franklin, Freie Universität Berlin, Berlin, Germany;4. Institut für Medizinische Genetik, Charité Campus Mitte, Medizinische Fakultät der Humboldt Universität zu Berlin, Berlin, Germany;5. Pathologisches Institut der Universität München, München, Germany |
| |
| Abstract: | 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 & Sons, Ltd. |
| |
| Keywords: | skeletal dysplasia short rib-polydactyly syndrome fetus osteochondrodysplasia Dandy–Walker cyst campomelia |
|
|
