Síndrome de Beals

Authors

  • Gustavo Marruffo Huapalla
  • Edwin Del Pozo Copaja

DOI:

https://doi.org/10.20453/rhr.v1i1.2893

Abstract

El síndrome de Beals es una enfermedad hereditaria del tejido conectivo. Tiene un carácter autosómico dominante. Fenotípicamente, es parecido al síndrome de Marfan, pero menos grave. Se caracteriza por aracnodactilia,dolicostenomelia, cifoscoliosis, contracturas múltiples congénitas, alteraciones de los pabellones auriculares, hipoplasia de los músculos de la pantorrilla y cardiopatía. El gen responsable de este síndrome (5q-23-31) codifica una proteína, la fibrilina 2, componente de las microfibrillas de elastina. La evolución de las contracturas es hacia la mejoría, pero la cifoscoliosis puede ser progresiva. Describimos un nuevo caso y revisamos la bibliografía médica.

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Published

2016-08-29

How to Cite

Marruffo Huapalla, G., & Del Pozo Copaja, E. (2016). Síndrome de Beals. Revista Herediana De Rehabilitación, 1(1), 32. https://doi.org/10.20453/rhr.v1i1.2893

Issue

Vol. 1 No. 1 (2016): Enero-junio

Section

CASE REPORTS

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