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Arthrogryposis multiplex congenita‐like syndrome associated with median cleft lip and palates: First prenatally detected case
Authors:Gabriele Tonni  Mario Lituania
Institution:1. Prenatal Diagnostic Center, Guastalla Civil Hospital, , Reggio Emilia, Italy;2. Department of Obstetrics and Gynecology, Galliera Hospital, , Genoa, Italy
Abstract:An early second‐trimester prenatal ultrasound diagnosis of an arthrogryposis multiplex congenita‐like syndrome associated with median clefts is reported. A molecular biological work‐up was performed to search for a potentially overlapping syndrome and dysostosis. Autopsy and postmortem radiogram were performed to confirm the ultrasound diagnosis. Prenatal diagnosis enabled early detection of multiple fetal malformations, thus allowing early termination of pregnancy. Moreover, three‐dimensional ultrasound with volume rendering in the maximum surface mode demonstrated its value in diagnosing oro‐facial clefts, even at an early stage of fetal development.
Keywords:3D/4D ultrasound  arthrogryposis multiplex congenita  autopsy  cleft lip and cleft palate  prenatal diagnosis
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