Case 8 :
A young female presented with pain in abdomen and short stature. On examination, short stature and anterior bowing of lower limbs was noted. There was no history of mental retardation or rickets or history suggestive of syphilis. No anemia or metabolic abnormality was noted on routine lab investigations.
 What is the diagnosis?

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Radiographic Features

Radiographic examination reveals anterior bowing of both tibia and fibulae with posterior cortical thickening and irregular bony trabeculae in the mid-shafts. These findings are characteristic of Weissmann-Netter-Stuhl syndrome, as the characteristic radiographic stigmata of healed rickets and syphilis were absent in this case.


In 1954, Weissmann-Netter and Stuhl in France reported 7 patients with an osteodysplasia characterized by non-progressive, asymptomatic anterior bowing of tibia and fibula with thickening of the posterior diaphyseal cortex. Mental retardation and family history have also been documented in subsequent reported cases. No specific lab abnormalities have been demonstrated.

The radiographic features are pathognomic: bowing of both tibiae and fibulae with an anterior convexity and the apex of the curve is at the junction of middle and lower third, this is a constant feature of this syndrome. The trabecular pattern of the medullary cavity of the midshaft is distorted, and typically, posterior cortical thickening is seen. Horizontalization of the sacrum, squaring of the ilia, and a low position of L5 relative to the iliac bone are associated deformities.

Differential diagnosis includes healed rickets and osseous syphilis. Classical sabre shin of congenital syphilis shows periosteal thickening of the anterior tibial cortex, as opposed to posterior thickening seen in Weissmann-Netter-Stuhl syndrome, while epiphyseal abnormalities, metaphyseal zones of increased densities, and other stigmata of rickets are absent in patients with toxopachyosteose. Severe bowing may be seen in osteogenesis imperfecta, but again, multiple fractures and osteoporosis are present with this disease and allows for easy differentiation.


1.     Amendola MA, Brower AC, Tisnado J. Weismann-Netter-Stuhl syndrome: Toxopachyosteose Diaphysaire Tibio-Peroniere. AJR 1980; 135: 1211-15.

2.     HillerHG. Weissman-Netter-Stuhl syndrome. Australas Radiol 1976; 20: 174-5.


Dr. Vinay Gheyi



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