Arthrogryposis multiplex congenita‐like syndrome associated with median cleft lip and palates: First prenatally detected case. (2nd September 2013)

• Record Type: Journal Article
• Authors: Tonni, Gabriele; Lituania, Mario
• Is Part Of: Congenital anomalies. Volume 53:Number 3(2013:Sep.)
• Page Start: 137
• Page End: 140
• Publication Date: 2013-09-02
• Subjects: 3D/4D ultrasound -- arthrogryposis multiplex congenita -- autopsy -- cleft lip and cleft palate -- prenatal diagnosis; Abnormalities, Human -- Periodicals; 616.043
• DOI: 10.1111/j.1741-4520.2012.00388.x
• Languages: English
• ISSNs: 0914-3505

Abstract

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.