Toxopachyosteose diaphysaire tibio-peroniere (Weismann-Netter-Stuhl syndrome): two case reports.
Two patients with the Weismann-Netter-Stuhl syndrome are presented, one with classic and widespread findings, the other with minimal changes. Subsequent to its initial description in the French literature seven cases have been reported in English. The syndrome is characterized by anterior bowing of the tibia and fibula with posterior cortical thickening and trabecular irregularity in the region of bowing. Other long bones may be similarly affected. Scoliosis and pelvic findings are frequent. Short stature is usually present. The syndrome appears to be a generalized diaphyseal dysplasia.
D000368:Aged; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging; D005360:Fibula / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging