Abstract

DOMINGUEZ RUIZ, Bárbara Zoila et al. Madelung deformity: a case presentation. Rev Cuba Reumatol [online]. 2020, vol.22, n.2  Epub Aug 01, 2020. ISSN 1817-5996.

Madelung's deformity is a rare alteration of the wrist joint. It is linked to mutations of the SHOX gene. It is characterized by alterations in the radius, carpus and ulna, predominantly bilateral. It mainly affects female patients; signs and symptoms are evident at the beginning of adolescence. To present a case of a patient with a diagnosis of Madelung deformity. The case of a 15-year-old female patient with a health history and family history of interest of an equine clubfoot father is presented. When she entered adolescence, she began to present deformity in both wrists, more marked in the right side accompanied by pain. This is a patient with a Madelung deformity. The diagnosis was concluded by the clinic associated with the positivity of the imaging studies.

Keywords : Madelung deformity; wrist deformity; radius and ulna; SHOX gene mutations.

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