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Acondroplasia - Symptom

Síntomas:

La apariencia típica del enanismo acondroplásico se puede observar en el momento del nacimiento. Los síntomas pueden abarcar:

  • Apariencia anormal de las manos con un espacio persistente entre el dedo del corazón y el anular
  • Pies en arco
  • Disminución del tono muscular
  • Diferencia muy marcada en el tamaño de la cabeza con relación al cuerpo
  • Frente prominente (prominencia frontal)
  • Brazos y piernas cortos (especialmente la parte superior del brazo y el muslo)
  • Estatura baja (significativamente por debajo de la estatura promedio para una persona de la misma edad y sexo)
  • Estenosis raquídea
  • Curvaturas de la columna vertebral llamadas cifosis y lordosis

Pruebas y exámenes:

Durante el embarazo, una ecografía prenatal puede mostrar líquido amniótico excesivo rodeando al feto.

El examen del bebé después de nacer muestra un aumento en el tamaño de la cabeza de adelante hacia atrás. Asimismo, puede haber signos de hidrocefalia ("agua en el cerebro").

Las radiografías de los huesos largos pueden revelar la presencia de acondroplasia en el recién nacido.

  • Reviewed last on: 11/2/2009
  • Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Horton WA, Hecht JT. Disorders involving transmembrane receptors. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 694.

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