JUVENILE RHEUMATOID-ARTHRITIS IN VELO-CARDIO-FACIAL SYNDROME - COINCIDENCE OR UNUSUAL COMPLICATION

We report on two patients with velo-cardio-facial syndrome (VCFS) and juvenile rheumatoid arthritis (JRA), The first, a 9-year-old girl, pre sented with microcephaly, characteristic face, congenital heart diseas e, and velopharyngeal insufficiency, Fluorescence in situ hybridizatio n (FISH) study showed deletion of D22S75 (N25), confirming the diagnos is of VCFS, At age 7, she developed joint pain, and polyarticular JRA was diagnosed, Awareness of this case led to the subsequent diagnosis of VCFS (also confirmed by FISH) in another, unrelated 12-year-old gir l with characteristic face, hypernasal speech, and obesity, JRA was fi rst diagnosed in this case at age 5 years, and she subsequently develo ped severe polyarticular disease, Neither patient had clinical or labo ratory evidence of immunodeficiency. This observation represents the f irst report of the association of JRA with VCFS and raises the questio n of whether this is a coincidental association or a rare complication of this condition. (C) 1996 Wiley-Liss, Inc.