El pie en el síndrome de Rubinstein-Taybi
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Javier Alonso Peña ; M. J. León Hidalgo ; Raquel Sánchez Rodríguez ; Alfonso Martínez Nova ; David Alonso Peña ; Carolina Rosende Bautista [1]
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[1] Universidade da Coruña
Universidade da Coruña
A Coruña, España
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- Localización: Pediátrika, ISSN 0211-3465, Vol. 24, Nº. 3, 2004, págs. 87-91
- Idioma: español
- Texto completo no disponible (Saber más ...)
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Resumen
Rubinstein-Taybi Syndrome (SRT) it is an unusal, multisistemic and genetic illness with variable clinical expression. It is characterized by mental retardation, broad thumbs and great toes, and characteristic facial features. This syndrome is uncommon and, although sometimes it is autosomic dominant inherited, most of cases are due to a genetic mutation during the fetal development. Those affected by this syndrome can present alterations at lower limbs; so, the knowledge of the syndrome can help to outline alternative of effective treatment. In this report the case of a 14 year-old patient with RTS is presented with alterations in the lower limbs, such a right knee dislocation, complete and simple sindactily of second and third toes, pes cavus and unstable gait. We focus the orthopaedic treatment for this patient.
