Inherited multicentric osteolysis with arthritis: A variant resembling Torg syndrome in a Saudi family

The autosomal recessive multicentric osteolytic disorders of childhood-Torg , Winchester, and Francois syndromes-predominantly affect the carpal, tarsa l, and interphalangeal joints, and their progressive bone loss and cripplin g arthritic deformities mimic severe juvenile rheumatoid arthritis. In a co nsanguineous Saudi Arabian family two affected sibs with facial anomalies a nd short stature displayed a distal arthropathy of the metacarpal, metatars al, and interphalangeal joints starting in the first few months of life tha t eventually progressed to the proximal joints and resulted in crippling an kylosis and severe generalized osteopenia, Facial changes included proptosi s, a narrow nasal bridge, bulbous nose, and micrognathia, In addition, they had large, painful fibrocollagenous palmar and plantar pads and mild body hirsutism, Affected individuals were of normal intelligence and had normal renal function, Routine hematologic, chemistry, and rheumatoid studies were within normal limits. Histologic examination of bone marrow and an interph alangeal joint biopsy were not informative. The autosomal recessive inherit ance, clinical, and radiologic characteristics of the affected sibs suggest ed that they had a form of multicentric osteolysis most closely resembling the Torg syndrome, but with a unique facial appearance, fibrocollagenous pa ds, and body hirsutism not noted in the original description of the syndrom e. Am. J. Med. Genet, 93:11-18, 2000, (C) 2000 Wiley-Liss, Inc.