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Acrodisostosis - Symptom

Nombres alternativos

Acrodisplasia; Arkless-Graham; Maroteaux-Malamut

Síntomas:

  • Frecuentes infecciones del oído medio
  • Problemas de crecimiento, brazos y piernas cortos
  • Problemas auditivos
  • Deficiencia mental
  • Cara de apariencia inusual

Signos y exámenes:

Un examen físico confirma este trastorno.

Los hallazgos pueden abarcar:

  • Edad ósea avanzada
  • Deformidades óseas en manos y pies
  • Retraso en el crecimiento
  • Problemas con la piel, los genitales, los dientes y el esqueleto
  • Brazos y piernas cortos con deformidades de las manos y los pies
  • Cabeza corta, medida de adelante a atrás (braquicefalia)
  • Baja estatura
  • Nariz ancha, pequeña y curvada hacia arriba con puente nasal plano
  • Rasgos faciales inusuales (nariz corta, boca abierta y mandíbula sobresaliente)
  • Cabeza inusual
  • Ojos ampliamente espaciados (hipertelorismo), a veces con pliegue de piel adicional en las esquinas de éstos

En los primeros meses de vida, las radiografías pueden mostrar manchas de depósitos de calcio, llamado punteado, en los huesos (especialmente la nariz). Los bebés también pueden presentar:

  • Dedos de manos y pies anormalmente cortos (braquidactilia)
  • Crecimiento precoz de huesos de manos y pies
  • Huesos cortos
  • Acortamiento de los huesos del antebrazo cerca a la muñeca
  • Reviewed last on: 11/1/2010
  • 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.
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