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Síndrome de Noonan - Symptom

Síntomas:

  • Retardo en la pubertad
  • Ojos de base amplia o inclinados hacia abajo
  • Hipoacusia (varía)
  • Orejas de implantación baja o de forma anormal
  • Retardo mental leve (sólo en aproximadamente el 25% de los casos)
  • Párpados caídos (ptosis)
  • Estatura baja
  • Pene pequeño
  • Criptorquidia
  • Forma inusual del tórax (generalmente un tórax hundido llamado tórax excavado)
  • Cuello con pliegues y de apariencia corta

Pruebas y exámenes:

El médico llevará a cabo un examen físico, el cual puede mostrar signos de cardiopatía congénita (especialmente estenosis pulmonar y en ocasiones comunicación interauricular).

Los exámenes dependen de los síntomas, pero pueden abarcar:

Las pruebas genéticas pueden ayudar a diagnosticar este síndrome.

  • Reviewed last on: 8/4/2011
  • 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

Rapaport R. Hypofunction of the Ovaries. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 587.

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