Elsevier

Joint Bone Spine

Volume 67, Issue 6, December 2000, Pages 539-543
Joint Bone Spine

CASE REPORT
Weismann-Netter-Stuhl syndrome: first Brazilian case reports

https://doi.org/10.1016/S1297-319X(00)00219-0Get rights and content

Abstract

Weismann-Netter-Stuhl syndrome was first described in 1954 and is defined by an anterior curvature of the bones of the lower limbs, usually bilateral and symmetrical. Since its initial description, 82 cases were reported, including only 14 pediatric patients. The authors report two cases of this syndrome. One patient was an adult who presented with almost all the characteristic features of the disease. The second case was a 12-year-old girl who also presented with severe bone deformities of the upper limbs. Weismann-Netter-Stuhl syndrome is probably more common than previously reported and must be included in the differential diagnosis of rickets/osteomalacia, congenital syphilis and some cases of Paget’s disease.

Section snippets

Case 1

A 55-year-old Black woman presented with pain of the knees. The X-ray showed osteoarthritis of the knee joints. She developed lower limb deformities over the years, characterized by the bowing of the tibiae and the fibulae. She had no other complaints and there was no similar case in the family. Her physical examination was unremarkable except for an anterior bilateral curvature of the tibiae (figure 1A) and genu valgum as well as a bilateral bowing of the upper limbs. A thyroid nodule,

Discussion

The bone deformities of case 1 led to a misdiagnosis of Paget’s disease. However, in Paget’s disease the bones are asymmetrically affected, the cortical thickening affects both concave surfaces, the volume increases, there is coarsened trabeculae and the tubular bones’ involvement almost invariably begins in the epiphysis [9]. Those findings were not seen in our case. The fibulae enlargement seen in our case is not a common feature of Paget’s disease. The bone X-ray image may be helpful to

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