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Actual. osteol ; 13(2): 177-182, Mayo - Ago. 2017. ilus, tab
Article in Spanish | LILACS | ID: biblio-1118335

ABSTRACT

La deformidad de Madelung es una alteración poco común de la articulación de las muñecas, con una prevalencia desconocida por los pocos casos reportados hasta la actualidad. Se vincula a mutaciones del gen SHOX. Se caracteriza por presentar alteraciones en el radio, el carpo y el cúbito, con predominio bilateral. Afecta principalmente a pacientes de sexo femenino; los signos y síntomas se revelan al inicio de la adolescencia. Presentamos el caso clínico de una paciente de sexo femenino de 17 años que registra las manifestaciones clínicas y radiográficas características. (AU)


Madelung deformity is a rare alteration of the wrist joint of unknown prevalence due to the few cases reported. It has been linked to SHOX gene mutations. Madelung deformity is characterized by alterations of the radius, carpus and ulna, predominantly bilateral and mainly seen in female patients at the beginning of the adolescence. We report the clinical case of a 17-yearold female patient presenting the characteristic clinical and radiographic deformities. (AU)


Subject(s)
Humans , Female , Adolescent , Bone Diseases, Developmental/diagnostic imaging , Lipomatosis, Multiple Symmetrical/diagnostic imaging , Radius/pathology , Ulna/pathology , Wrist Joint/pathology , Weight by Height , Lipomatosis, Multiple Symmetrical/etiology , Lipomatosis, Multiple Symmetrical/pathology , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Forearm/pathology , Short Stature Homeobox Protein/deficiency , Short Stature Homeobox Protein/genetics , Neuromuscular Agents/therapeutic use
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