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.