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Síndrome de Scheie - Symptom

Nombres alternativos

Mucopolisacaridosis tipo I S; MPS I S

Síntomas:

Los síntomas pueden no aparecer hasta la edad de 4 ó 5 años y pueden ser:

  • Boca ancha con labios gruesos
  • Manos en forma de garra y pies deformes
  • Opacidad de la córnea y pérdida progresiva de la visión que termina en ceguera
  • Rasgos faciales toscos
  • Aumento del vello corporal (hirsutismo)
  • Prognatismo
  • Rigidez en articulaciones

Pruebas y exámenes:

Un examen físico puede mostrar signos de:

Un examen ocular mostrará opacidad de la córnea y pigmentación de la retina.

Se llevan a cabo exámenes de orina. Las personas con el síndrome de Scheie tienen aumento en las cantidades de dermatán y heparán sulfato en su orina. Ver: dermatán sulfato en la orina

Otros exámenes pueden abarcar:

  • Reviewed last on: 5/15/2011
  • Chad Haldeman-Englert, MD, Wake Forest 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.
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