| Literature DB >> 12749032 |
S Planas1, R Peiró, R Rubio, R Villanueva, A Serés, R Carreras.
Abstract
Two male siblings with several malformations are reported. The anomalies detected in both fetuses were mesomelic camptomelia, postaxial hexadactyly and Dandy-Walker complex. There was only one similar previous report in the literature. This combination could represent a specific pattern of malformation or a new syndrome, with different variants. The parents' consanguinity and the recurrence in a subsequent pregnancy suggest an autosomal recessive inheritance pattern. Copyright 2003 John Wiley & Sons, Ltd.Entities:
Mesh:
Year: 2003 PMID: 12749032 DOI: 10.1002/pd.601
Source DB: PubMed Journal: Prenat Diagn ISSN: 0197-3851 Impact factor: 3.050