A new report of mesomelic camptomelia, polydactyly and Dandy-Walker complex in siblings.
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.
Unit of Echography and Prenatal Diagnosis, Department of Obstetrics and Gynaecology, Hospital del Mar, Universitat Autònoma de Barcelona, Barcelona, Spain. splanasr@sego.es
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Planas
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Peiró
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Rubio
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Villanueva
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Serés
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Carreras
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D000025:Abortion, Eugenic; D000328:Adult; D003241:Consanguinity; D003616:Dandy-Walker Syndrome / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D005865:Gestational Age; D006801:Humans; D010009:Osteochondrodysplasias / Q000151:congenital / Q000473:pathology*; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000473:pathology*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D012801:Sibling Relations; D014463:Ultrasonography