Reuss A, den Hollander J C, Niermeijer M F, Wladimiroff J W, van Diggelen O P, Lindhout D, Los F J
Department of Obstetrics and Gynecology, Erasmus University Rotterdam, The Netherlands.
Am J Med Genet. 1989 Jul;33(3):385-9. doi: 10.1002/ajmg.1320330319.
In 2 consanguineous relationships, a Cape Verdian man fathered six fetuses (5 male) with fetal ventriculomegaly and echodense fetal kidneys as visualized by ultrasonography between 16 and 32 weeks. During prenatal monitoring, an increased alpha fetoprotein level and abnormal acetylcholinesterase were detected at amniocentesis in 5 of 6 affected fetuses. Chromosomes were normal. Five pregnancies resulted in elective termination; one child was still-born prematurely. Hydrocephalus and cystic disease of the (renal) cortico medullary areas were found. One fetus had polydactyly. The differential diagnosis and prenatal diagnosis of this presumably autosomal recessive syndrome are discussed.
