Bilateral coxa vara and tibia vara associated with severe short stature in a girl manifesting a constellation of bone lesions with exclusive involvement of the lower limbs

Abstract

In most instances, a toddler is seen with unilateral varus of the tibia, usually the deformity appearing slightly more distal than the knee joint. Radiographs of the focal fibrocartilaginous dysplasia show a characteristic abrupt varus at the metaphyseal — diaphyseal junction of the tibia. Cortical sclerosis is in and around the area of the abrupt varus on the medial cortex. A radiolucency may appear just proximal to the area of cortical sclerosis. The aetiology of such defects and the pathogenesis of the deformity are mostly unknown. Many of the associated factors suggest that the condition at least partly results from a mechanical overload of the medioproximal tibial physis. The evaluation of a child with suspected pathologic tibia vara begins with a thorough history. A complete birth and developmental history should include the age at which the child begun walking. The medical history should identify any renal disease, endocrinopathies, or known skeletal dysplasia. The physical examination also should include the child’s overall lower extremity alignment and symmetry, hip and knee motion, ligamentous hyperlaxity, and tibial torsion. We describe on a 17 year-old-girl who manifests severe short stature associated with multiple orthopaedic abnormalities, namely, bilateral coxa vara and tibia vara. Radiographic documentation showed bilateral and symmetrical involvement of the lower limbs with the extensive form of fibrocartilaginous dysplasia, osteoporosis, and osteolytic lesions. The constellation of the malformation complex of osteolytic lesions, fibrocartilaginous changes and the polycystic like fibromas are not consistent to any previously published reports of fibrocartilaginous dysplasia. To the best of our knowledge, it seems that fibrocartilaginous changes are part of a novel type of skeletal dysplasia.