title: MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium.
authors.forename: I
authors.initials: I
authors.lastname: Witters
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: D
authors.initials: D
authors.lastname: Spinnewijn
authors.forename: P
authors.initials: P
authors.lastname: Moerman
authors.forename: F A
authors.initials: FA
authors.lastname: Van Assche
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: 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