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Síndrome de Marfan - Symptom

Síntomas:

Las personas con el síndrome de Marfan generalmente son altas con brazos y piernas delgadas, al igual que dedos en forma de araña, una afección llamada aracnodactilia. Cuando ellos estiran los brazos, la envergadura de éstos es mucho mayor a su estatura.

Otros síntomas abarcan:

  • Un tórax que se hunde o sobresale: tórax en embudo (tórax excavado) o pecho de paloma (tórax en quilla)
  • Pie plano
  • Paladar muy arqueado y dientes apiñados
  • Hipotonía
  • Articulaciones que son demasiado flexibles
  • Dificultades de aprendizaje
  • Movimiento del cristalino del ojo de su posición normal (dislocación)
  • Miopía
  • Mandíbula pequeña y baja (micrognatia)
  • Columna que se curva hacia un lado (escoliosis)
  • Cara estrecha y delgada

Signos y exámenes:

El médico llevará a cabo un examen físico. Se pueden presentar articulaciones hipermóviles y signos de:

  • Aneurisma
  • Atelectasia pulmonar
  • Problemas con las válvulas cardíacas

Un examen ocular puede mostrar:

Se pueden llevar a cabo los siguientes exámenes:

Cada año, se debe realizar una ecocardiografía para examinar la base de la aorta.

  • Reviewed last on: 5/10/2010
  • Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Ausiello D. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 281.

Robinson LK, Fitzpatrick E. Marfan syndrome. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 700.

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