Abstract for presentation at 11th International Congress of Human Genetics

Polycystic kidneys may be a feature of a number of syndromes. We report 2 cases of bilateral polycystic renal disease plus other abnormalities in two consecutive pregnancies. The range of features has not been reported before and we feel they represent a new syndrome
The parents were a non-consanguineous Caucasian couple. The first pregnancy was noted to have oligohydramnios and cystic kidneys on a morphology ultrasound at 19 weeks gestation. In view of the poor prognosis a termination of pregnancy was carried out. The first fetus was female and on post mortem examination was found to have bilateral polycystic kidneys, bicornuate uterus, malrotation of the gut, absent gallbladder, annular pancreas, absent spleen, pulmonary hypoplasia and bilateral talipes. The second pregnancy followed similar course with a termination at 21 weeks. The second fetus was male and had features similar to the first fetus, however a minute spleen was identified and duodenal atresia was noted. In addition the second fetus had a bile duct plate abnormality, cystic dysplastic epididymis and a probable Dandy Walker malformation. Chromosome studies on both fetuses were normal and subtelomeric FISH analysis on the second fetus did not detect any abnormalities. The full pathological features of the fetuses and a discussion of the differential diagnoses will be presented. The features of these siblings do not fit specifically into any condition and may represent a new condition.