Multiple congenital anomalies syndrome with multicystic renal dysplasia, postaxial polydactyly and lumbosacral meningocoele. Difficulties in nosological classification and genetic counseling.
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.
Witters
I
I
Department of Obstetrics and Gynecology, University of Leuven, Belgium.
Moerman
Ph
P
Natens
R
R
Van Assche
F A
FA
Fryns
J P
JP
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