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Updated: Sep 10, 2025

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Conocimiento de la correlación genotipo-fenotipo en un caso raro con síndromes osteodisplásicos múltiples

Christos Yapijakis^1,2, Iphigenia Gintoni^1,2, Myrsini Chamakioti^1,2

¹Unit of Orofacial Genetics, 1st Department of Pediatrics, School of Medicine, National Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, 115 27 Athens, Greece.

|August 28, 2025

Resumen

Este estudio informa de un caso raro de una mujer de 48 años con múltiples síndromes osteodisplásicos coexistentes, identificados a través de pruebas genéticas avanzadas. La investigación genética temprana es crucial para el manejo de estos trastornos óseos complejos.

Área de la Ciencia:

Genética y Biología Molecular
Displasias esqueléticas
Informes de casos médicos

Sus antecedentes:

Los síndromes osteodisplásicos son diversos trastornos genéticos que afectan el desarrollo de los huesos y el tejido conectivo.
Se caracteriza por presentaciones clínicas y genéticas heterogéneas que afectan a la densidad y estructura ósea.
Este informe detalla un caso complejo en una mujer de 48 años con displasia ósea, hiperostosis y agenesia dental parcial.

Palabras clave:

Trayectoria Wnt densidad ósea Displasia ósea pruebas genéticas Modelado molecular Síndromes osteodisplásicos Osteogénesis Anomalías esqueléticas

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