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Mesomelic campomelia, polydactyly and Dandy–Walker cyst in siblings
Author(s) -
Guschmann Michael,
Horn Denise,
Entezami Michael,
Urban Maik,
Hänel Susanne,
Kunze Jürgen,
Vogel Martin
Publication year - 2001
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.70
Subject(s) - polydactyly , medicine , anatomy , fourth ventricle , intestinal malrotation , sibling , dandy–walker syndrome , fetus , ventricle , cyst , hydrocephalus , surgery , pregnancy , biology , psychology , developmental psychology , genetics
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.
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