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Síndrome de Rubinstein-Taybi - Symptom

Nombres alternativos

Síndrome de Rubinstein; SRT

Síntomas:

  • Pulgares anchos y dedos del pie gruesos
  • Estreñimiento
  • Exceso de vello en el cuerpo (hirsutismo)
  • Defectos cardíacos que posiblemente requieran cirugía
  • Retardo mental
  • Convulsiones
  • Estatura baja que se nota después del nacimiento
  • Desarrollo lento de habilidades cognitivas
  • Desarrollo lento de habilidades motoras acompañado de poco tono muscular

Otros signos y síntomas pueden abarcar:

Pruebas y exámenes:

El médico llevará a cabo un examen físico. Se harán exámenes de sangre y se tomarán radiografías.

Se pueden hacer pruebas genéticas para determinar si los genes involucrados en esta enfermedad faltan o cambiaron.

  • 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

Morelli JG. Disorders of the Nails. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 662.

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