Hydrolethalus syndrome is comprised of a group of congenital malformations including polyhydramnios, severe hydrocephalus, cleft lip/palate, respiratory tract abnormalities, micrognathia, and often polydactyly, and it is uniformly lethal.' The syndrome has autosomal recessive inheritance.2 It was described in 1981 by Salonen in 24 newborn infants in 18 families in Finland.3 We report a case of hydrolethalus syndrome in a 32 week, menstrual age (MA), male infant. Prenatal ultrasound evaluation a t 26 weeks demonstrated severe hydrocephalus, lack of fetal movement, and congenital contractures. Ultrasound evaluation allows antenatal recognition of the anomalies associated with hydrolethalus syndrome. When unusually severe hydrocephalus is seen in combination with other anomalies, hydrolethalus syndrome should be considered. This will alert those involved to the need for appropriate obstetrical care, further genetic evaluation, and counseling.
REPORT OF CASE
Ultrasound evaluation of a 27-year-old gravida 3 para 2 woman at 26 weeks revealed a single fetus in the breech position. Mild polyhydramnios was noted. The fetal head was markedly enlarged, corresponding t o a 33-week fetus (Figure 1). Estimate of true MA was 26 weeks.
The falx cerebri and tentorium were visualized in the fluid-filled skull (Figure 2). There was a thin 2-mm cerebral mantle (Figure 3). There was no evidence of thalami or septum pellucidum. The cerebellum was noted to be absent or From the