A new report of mesomelic camptomelia,polydactyly and Dandy–Walker complex in siblings |
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| Authors: | S. Planas R. Peiró R. Rubio R. Villanueva A. Serés R. Carreras |
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| Affiliation: | 1. Unit of Echography and Prenatal Diagnosis, Department of Obstetrics and Gynaecology, Hospital del Mar, Universitat Autònoma de Barcelona, Barcelona, Spain;2. Prenatal Genetics Center, Barcelona, Spain |
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| 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. |
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| Keywords: | skeletal dysplasia mesomelic camptomelia polydactyly Dandy–Walker complex |
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