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A new report of mesomelic camptomelia, polydactyly and Dandy–Walker complex in siblings
Author(s) -
Planas S.,
Peiró R.,
Rubio R.,
Villanueva R.,
Serés A.,
Carreras R.
Publication year - 2003
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.601
Subject(s) - polydactyly , autosomal recessive inheritance , dandy–walker syndrome , anatomy , medicine , fetus , pediatrics , biology , pregnancy , genetics , hydrocephalus , surgery , gene
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.