Síndrome Costello. Reporte de un caso

Authors

  • Elayne E. Santana Hernández
  • Víctor Jesús Tamayo Chang
  • Odette Wagner Vigo
  • Onelis Pupo Zalazar

Keywords:

síndrome de Costello, anomalías craneofaciales, insuficiencia del crecimiento, enfermedades raras.

Abstract

El síndrome de Costello es una enfermedad poco frecuente, se caracteriza por talla baja, retraso en el desarrollo y facies característica. Se hereda con patrón autosómico dominante, aunque se han descrito muchos casos esporádicos, donde la mutación se produjo en células germinales, apareciendo de novo, como mutación nueva. Se presenta un caso con retardo en el desarrollo pondoestatural y psicomotor, asociado a facie tosca. Se considera importante el método clínico para realizar diagnóstico de estas enfermedades raras, donde es necesario la estimulación temprana y el asesoramiento genético a los familiares

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References

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Published

2017-01-15

How to Cite

1.
Santana Hernández EE, Tamayo Chang VJ, Wagner Vigo O, Pupo Zalazar O. Síndrome Costello. Reporte de un caso. Medimay [Internet]. 2017 Jan. 15 [cited 2024 Dec. 22];24(1):79-86. Available from: https://revcmhabana.sld.cu/index.php/rcmh/article/view/1044

Issue

Vol. 24 No. 1 (2017)

Section

CASE REPORTS

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