Prenatal detection of the autosomal dominant type of congenital hydronephrosis by ultrasonography.
We report a family with clearly defined two generation, and probable four generation uropathy due to a congenital malformation of the genitourinary system. There appears to be variation in expression within this family and a severely affected fetus was detected by ultrasonography at 31 weeks gestation.
D000328:Adult; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D006869:Hydronephrosis / Q000151:congenital / Q000175:diagnosis*; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography; D014564:Urogenital Abnormalities