Prenatal diagnosis of glomerulocystic kidney disease in short-rib polydactyly syndrome type II, Majewski type.
An 18-year-old gravida 1 para 0 female was presented at 35 weeks' gestation with severe oligohydramnios. Sonography revealed a fetus with hydrops, bilaterally enlarged echogenic kidneys, and short extremities. The infant died at birth and autopsy was compatible with short-rib polydactyly syndrome type II, Majewski type. Renal histology was consistent with glomerulocystic disease.
D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000150:complications / Q000000981:diagnostic imaging* / Q000196:embryology; D007678:Kidney Glomerulus / Q000000981:diagnostic imaging; D011247:Pregnancy; D012779:Short Rib-Polydactyly Syndrome / Q000150:complications / Q000000981:diagnostic imaging* / Q000196:embryology; D016216:Ultrasonography, Prenatal