Síndrome Treacher-Collins. Presentación de caso.

Authors

  • Elayne Esther Santana Hernández
  • Víctor Jesús Tamayo Chang

Keywords:

disostosis mandibulofacial, anomalías craneofacial, cigoma.

Abstract

El Síndrome Treacher-Collins es un trastorno craneofacial congénito que se produce por la mutación del gen TCOF1, localizado en el cromosoma 5q31-33. Se caracteriza por malformaciones mandibulofaciales, donde se destacan la micrognatia severa, macrostomia y microtia de grado variable. La forma de herencia predominante es la autosómico dominante, aunque se han reportado casos autosómicos recesivos y mutaciones de novo. Se presenta este caso teniendo en cuenta lo poco frecuente de este síndrome malformativo, con el objetivo de destacar la importancia del método clínico como forma de diagnóstico eficaz, al presentarse un recién nacido con malformaciones severas es necesario diagnosticar oportunamente la afección que presenta para ejecutar intervención multidisciplinaria que requiera y brindar un adecuado asesoramiento genético a la familia.

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References

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Published

2015-11-02

How to Cite

1.
Santana Hernández EE, Tamayo Chang VJ. Síndrome Treacher-Collins. Presentación de caso. Medimay [Internet]. 2015 Nov. 2 [cited 2024 Nov. 8];21(2):463-8. Available from: https://revcmhabana.sld.cu/index.php/rcmh/article/view/789

Issue

Vol. 21 No. 2 (2015)

Section

CASE REPORTS

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