Arthrogryposis multiplex congenita-like syndrome associated with median cleft lip and palates: first prenatally detected case.
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.
Prenatal Diagnostic Center, Guastalla Civil Hospital, Reggio Emilia, Italy. tonni.gabriele@ausl.re.it
Gabriele
G
Tonni
Mario
M
Lituania
D000032:Abortion, Therapeutic; D000328:Adult; D001176:Arthrogryposis / Q000175:diagnosis*; D001344:Autopsy; D002971:Cleft Lip / Q000175:diagnosis*; D002972:Cleft Palate / Q000175:diagnosis*; D005260:Female; D005865:Gestational Age; D006801:Humans; D021621:Imaging, Three-Dimensional; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal