Síndrome de Stikler: desprendimiento de retina, sordera neurosensorial y paladar herido. Reporte de un caso
DOI:
https://doi.org/10.61651/rped.2007v60n2p122-125Abstract
El síndrome de Stickler es una rara enfermedad autosómica dominante causada por defecto en los genes del colágeno lo que afecta el tejido conectivo al originar una alteración en la estructura de la colágena, produciendo signos característicos oculares, auditivos, articulares y óseos. Reportamos el caso de una adolescente con miopía severa, cataratas juveniles, desprendimiento de retina, sordera neurosensorial, paladar hendido y perfil facial plano por subdesarrollo de estructura facial media; además, con displasia espóndilo-epifisiaria moderada y artritis precoz. Paciente con una evolución clínica avanzada y diagnóstico tardío.
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