Case Report

Another Patient with Chromosome 18 Deletion Syndrome and Juvenile Rheumatoid Arthritis

PAUL ROSEN, ROBERT J. HOPKIN, DAVID N. GLASS, and T. BRENT GRAHAM

ABSTRACT.

Previously, 4 children with deletion of the long arm of chromosome 18 and chronic arthritis were reported. We present an 8-year-old girl with arthritis, atrial septal defect, external auditory canal atresia, and developmental delay. She is the fifth child reported with 18q– syndrome and juvenile rheumatoid arthritis. Evidence is mounting that genetic loci on chromosome 18 may play a role in the expression of complex autoimmune diseases. Idiopathic arthritis should be considered as a potential additional feature in 18q– syndrome. (J Rheumatol 2004;31:998-1000)

Key Indexing Terms:

CHROMOSOME DELETION
JUVENILE RHEUMATOID ARTHRITIS

---

From the William S. Rowe Division of Rheumatology and the Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine; Cincinnati, OH; and the Division of Rheumatology, Children's Hospital of Pittsburgh, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

P. Rosen, MD, MPH, Assistant Professor of Pediatrics, Division of Rheumatology, Children's Hospital of Pittsburgh; R.J. Hopkin, MD, Assistant Professor of Pediatrics, Division of Genetics; D.N. Glass, MD, Professor of Pediatrics, Division Director of Rheumatology; T.B. Graham, MD, Assistant Professor of Pediatrics, Division of Rheumatology, Cincinnati Children's Hospital Medical Center.

Address reprint requests to Dr. P. Rosen, MD, Children's Hospital of Pittsburgh, Division of Rheumatology, 3705 Fifth Ave., Pittsburgh, PA, USA, 15213-2583. E-mail: Paul.Rosen@chp.edu

Submitted June 10, 2003; revision accepted December 12, 2003.

---