Renal anomalies and oligohydramnios in the cerebro-oculofacio-skeletal syndrome.
We describe two infants with the cerebro-oculofacio-skeletal syndrome in whom oligohydramnios is an additional finding. The oligohydramnios could be accounted for in one by renal agenesis but cannot in the other, who had a functioning and histologically normal kidney. The diagnosis of Potter syndrome was suspected in both patients. It is important in counseling to recognize the distinctive phenotype of this autosomal-recessive syndrome.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D000653:Amniotic Fluid; D001842:Bone and Bones / Q000002:abnormalities; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D005124:Eye Abnormalities; D005145:Face; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications; D012886:Skull / Q000002:abnormalities; D013577:Syndrome