title: Multiple congenital anomalies syndrome with multicystic renal dysplasia, postaxial polydactyly and lumbosacral meningocoele. Difficulties in nosological classification and genetic counseling.
abstract: In this report we describe a 17 weeks old female fetus with a lumbosacral meningocoele, multicystic renal dysplasia (Potter type IIb) and postaxial polydactyly type A at the left hand and left foot. There was no hepatic fibrosis. Although multicystic renal dysplasia and postaxial polydactyly are often present in the Meckel syndrome, a lumbosacral neural tube defect is not a typical finding in this syndrome.
authors.affiliation: Department of Obstetrics and Gynecology, University of Leuven, Belgium.
authors.forename: I
authors.initials: I
authors.lastname: Witters
authors.forename: Ph
authors.initials: P
authors.lastname: Moerman
authors.forename: R
authors.initials: R
authors.lastname: Natens
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 / Q000145:classification / Q000000981:diagnostic imaging*; D000028:Abortion, Induced; D000293:Adolescent; D000649:Amniocentesis; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008161:Lumbosacral Region / Q000473:pathology*; D008588:Meningocele / Q000000981:diagnostic imaging*; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging*; D017689:Polydactyly / Q000000981:diagnostic imaging*; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal