Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects

Czeizel and Losonci (1987) described a woman with right hydronephrosis due to 'atresia of the ureter,' who required nephrectomy when she was 12 years old. Both hands and feet had cutaneous syndactyly. She also had spina bifida occulta involving 3 lumbar vertebrae, with mild thoracolumbar scoliosis. Her first offspring, a stillborn male, had lumbosacral spina bifida cystica with hydrocephalus and split-hand/foot. Autopsy showed atresia of the right ureter with hydronephrosis. The next pregnancy produced a liveborn boy who lived only 1 month and had split-hand/foot and megaloureter with bilateral hydronephrosis and a right diaphragmatic defect of Bochdalek type.