Hereditary multicentric osteolysis
Citation, DOI and case data
Chronic intermittent right hand pain.
X-rays of right and left forearms for comparison
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There is congenital deformity of the forearm with dislocation of the elbow
joint, absent carpal bones, dysmorphic bony structures including the ulna and radius, hypoplastic metacarpal bones and ankylosis of some of the interphalangeal joints.
X-ray findings supportive of the patient's known diagnosis of hereditary multicentric osteolysis, a syndrome characterized by osteolysis of carpal and tarsal bones and often associated with nephropathy leading to renal failure and eventually requiring transplantation, as was the case in this patient.