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Disostosis cleidocraneal - Symptom

Síntomas:

Los pacientes con disostosis cleidocraneal tienen una frente y mandíbula prominentes y el área de la mitad de la nariz (puente nasal) es ancha.

Los huesos de la clavícula pueden estar ausentes o tener un desarrollo anormal. Esto hace que los hombros se junten enfrente del cuerpo.

Los dientes primarios no se caen en el tiempo esperado. Los dientes permanentes se pueden desarrollar más tarde de lo normal y una serie adicional de estos dientes crece hacia adentro, lo cual hace que los dientes normales resulten torcidos.

La enfermedad no afecta la inteligencia.

Otros síntomas pueden abarcar:

  • Capacidad para juntar ambos hombros enfrente del cuerpo
  • Retraso en el cierre de las fontanelas ("puntos blandos")
  • Articulaciones flojas
  • Frente prominente (prominencia frontal)
  • Antebrazos cortos
  • Dedos de la mano cortos

Signos y exámenes:

Frecuentemente existe una historia familiar de disostosis cleidocraneal. Generalmente, se toman radiografías que pueden mostrar:

  • Subdesarrollo de la clavícula
  • Subdesarrollo del omóplato
  • Incapacidad de cierre del área en frente del hueso ilíaco
  • Reviewed last on: 1/29/2010
  • 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 transcription factors. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 696.

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