MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies.
We report the second trimester prenatal diagnosis of severe symmetrical limb deficiencies with posterior fossa cyst and cardiac anomaly in a female fetus. Fetopathological examination revealed additional anomalies: renal-hepatic-pancreatic dysplasia, cleft palate, and Müllerian duct anomaly. The spectrum of congenital malformations in the present observation is difficult to classify into a single syndrome entity and presents an overlap with several syndromes: Roberts syndrome, Goldston syndrome, and renal-hepatic-pancreatic dysplasia.
Witters
I
I
Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium.
Devriendt
K
K
Spinnewijn
D
D
Moerman
P
P
Van Assche
F A
FA
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D000328:Adult; D002972:Cleft Palate / Q000473:pathology*; D003388:Cranial Fossa, Posterior / Q000473:pathology; D003560:Cysts / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008099:Liver / Q000002:abnormalities; D009095:Mullerian Ducts / Q000002:abnormalities*; D010179:Pancreas / Q000002:abnormalities; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D013577:Syndrome; D016216:Ultrasonography, Prenatal