Hydrocephalus With Associated Malformations

Among the offspring of unrelated healthy parents, Game et al. (1989) observed 4 fetuses with growth retardation, hydrocephalus with patent aqueduct of Sylvius, micrognathia, hypoplastic multilobed lungs, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias, foot deformities, and other defects. Occurrence in 4 sibs (3 female), including 1 pair of monochorionic diamniotic twins, suggested autosomal recessive inheritance. The diagnosis was made prenatally in all 4 cases, hydrocephalus being the most striking abnormality on ultrasound examination and present as early as the fourteenth week of gestation.