Author(s): Zacharia B, Chundarathil J, Ramakrishnan V, Krishnankutty RM, Veluthedath R,
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Abstract BACKGROUND: Ochronosis is a very rare disorder with an incidence of 2 to 5 per million live births. It is a genetic disorder with autosomal recessive inheritance. It is characterized by dark brown pigmentation of cartilage, capsules of joints and other soft tissues. Ochronosis usually presents as ochronotic arthropathy and spondylosis. PURPOSE: This article describes a very rare presentation of scoliosis and fracture of the neck of the femur in a patient with ochronosis. METHODS: A 65-year-old woman with left-sided scoliosis presented to us following a fall with fracture of the neck of the femur on the left side. Radiological examination and biochemical study of urine were consistent with ochronosis. PROCEDURE AND RESULTS: We have treated the patient by excision arthroplasty. CONCLUSION: We report a case of scoliosis, fracture of the neck of the femur and ochronosis occurring together in a patient.
This article was published in J Inherit Metab Dis
and referenced in Journal of Arthritis