Upper limb anomalies and renal disease.
Two brothers with upper limb and renal anomalies have been identified. Their upper limb abnormalities were characterized by absence and hypoplasia of various bones; their renal anomalies included crossed-fused ectopia and vesico-ureteral reflux. Both suffered from chronic kidney failure secondary to reflux nephropathy. An autosomal or sex-linked mode of inheritance seems likely.
D000015:Abnormalities, Multiple / Q000235:genetics; D001132:Arm / Q000002:abnormalities* / Q000000981:diagnostic imaging; D001848:Bone Diseases, Developmental / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D011859:Radiography; D014718:Vesico-Ureteral Reflux / Q000235:genetics