Mesomelic campomelia, polydactyly and Dandy-Walker cyst in siblings

Citation
M. Guschmann et al., Mesomelic campomelia, polydactyly and Dandy-Walker cyst in siblings, PRENAT DIAG, 21(5), 2001, pp. 378-382
Citations number
11
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Reproductive Medicine","Medical Research Diagnosis & Treatment
Journal title
PRENATAL DIAGNOSIS
ISSN journal
0197-3851 → ACNP
Volume
21
Issue
5
Year of publication
2001
Pages
378 - 382
Database
ISI
SICI code
0197-3851(200105)21:5<378:MCPADC>2.0.ZU;2-W
Abstract
The present report describes two fetuses, one female and one male, with thu s far undescribed skeletal malformations, The mother was a gravida 2, para 0. Both pregnancies were terminated in the second trimester because of mult iple congenital anomalies diagnosed ultrasonographically resembling a short rib-polydactyly syndrome. Both fetuses were found to have postaxial hexada ctyly of the hands and feet, marked bilateral campomelia of the forearm and shank bones, and a Dandy-Walker cyst. In addition, the fourth ventricle wa s dilated in the first sibling and the second sibling had an inverse intest inal malrotation. A literature search failed to reveal similar observations . Copyright (C) 2001 John Wiley & Sons, Ltd.