Kabuki syndrome with rheumatoid arthritis: first case reported
Abstract
Kabuki syndrome (KS) is a congenital disorder. It was first described in 1981 by Niikawa and Kuroki in Japan and nearly 400 cases have been published worldwide. People with this syndrome present peculiar facial features, musculoskeletal alterations, mental retardation, congenital heart disease, kidney disease, dermatoglyphics alteration and short stature. Although the association between KS and autoimmune diseases is documented, recent evidence has not demonstrated to date its association with rheumatoid arthritis (RA). We present the description of the case of an 18-year-old patient with KS who consulted the Children's Rheumatology Service of the Pedro de Elizalde Children's Hospital due to pain in the left ankle of 10 months' duration. The patient was diagnosed with RA.References
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