Winchester syndrome

Winchester syndrome was first described in 1969 and since then nine patient s have been reported in the literature. The syndrome is characterized by sh ort stature, coarse face, corneal opacities, generalized osteolysis and pro gressive painful arthropathy with joint stiffness and contractures of dista l phalanges in combination with skin changes. The etiology is unknown. Pare ntal consanguinity supports autosomal inheritance. The diagnosis is based o n clinical and radiological manifestations. We describe a case in a 7-year- old Pakistani boy.