title: Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?
abstract: We report on two patients with velo-cardio-facial syndrome (VCFS) and juvenile rheumatoid arthritis (JRA). The first, a 9-year-old girl, presented with microcephaly, characteristic face, congenital heart disease, and velopharyngeal insufficiency. Fluorescence in situ hybridization (FISH) study showed deletion of D22S75 (N25), confirming the diagnosis 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 girl with characteristic face, hypernasal speech, and obesity. JRA was first diagnosed in this case at age 5 years, and she subsequently developed severe polyarticular disease. Neither patient had clinical or laboratory evidence of immunodeficiency. This observation represents the first report of the association of JRA with VCFS and raises the question of whether this is a coincidental association or a rare complication of this condition.
authors.affiliation: Division of Genetics, University of Florida, Gainesville 32610, USA.
authors.forename: S A
authors.initials: SA
authors.lastname: Rasmussen
authors.forename: C A
authors.initials: CA
authors.lastname: Williams
authors.forename: E M
authors.initials: EM
authors.lastname: Ayoub
authors.forename: J W
authors.initials: JW
authors.lastname: Sleasman
authors.forename: B A
authors.initials: BA
authors.lastname: Gray
authors.forename: A
authors.initials: A
authors.lastname: Bent-Williams
authors.forename: H J
authors.initials: HJ
authors.lastname: Stalker
authors.forename: R T
authors.initials: RT
authors.lastname: Zori
mesh_terms: D001171:Arthritis, Juvenile / Q000235:genetics*; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010375:Pedigree; D013577:Syndrome