Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?


Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Rasmussen, SA; Williams, CA; Ayoub, EM; Sleasman, JW; Gray, BA; Bent-Williams, A; Stalker, HJ; Zori, RT

Published Date

  • September 6, 1996

Published In

Volume / Issue

  • 64 / 4

Start / End Page

  • 546 - 550

PubMed ID

  • 8870920

Pubmed Central ID

  • 8870920

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/(SICI)1096-8628(19960906)64:4<546::AID-AJMG4>3.0.CO;2-N


  • eng

Conference Location

  • United States