Brachymesomelia-renal syndrome.
We have studied a male Japanese infant with severe upper limb brachymesomelia, glomerulocystic renal dysplasia, abnormalities of the cranium and face, corneal opacities, and a possible congenital heart defect. He was born at term and died on the 10th day of heart and kidney failure. Review of the literature failed to show a similar case. Glomerulocystic renal dysplasia has been reported in association with a variety of the nonskeletal malformations but has not previously been described in association with bony malformations.
D000015:Abnormalities, Multiple / Q000473:pathology*; D001848:Bone Diseases, Developmental / Q000151:congenital; D003318:Corneal Opacity / Q000151:congenital; D005542:Forearm / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D052177:Kidney Diseases, Cystic / Q000151:congenital*; D008297:Male; D013577:Syndrome