The Weismann-Netter, Stuhl syndrome: a rare pediatric skeletal dysplasia.

ABSTRACT

A 5-year-old girl presented with lower limb deformities, delayed ambulation, short stature, facial dysmorphism and scoliosis. Radiologic examination showed severe anterior and external bowing of the femurs and anterior and internal bowing of the tibia and fibula, with posterior and medial cortical thickening. Square iliac wings, horizontal sacrum and low-set L5 were also seen. The diagnosis of Weismann-Netter, Stuhl syndrome was established with the exclusion of abnormalities in mineral and vitamin D metabolism. This rare skeletal dysplasia should be included in the radiologic differential diagnosis of congenital deformities of the lower extremities.