A family affected with Blepharophimosis syndrome

Authors

  • Elayne Esther Santana Hernández Centro Provincial de Genética Médica. Holguín. Universidad de Ciencias Médicas "Mariana Grajales Coello". Holguín.
  • Victor Jesús Tamayo Chang Centro Provincial de Genética Médica. Holguín. Universidad de Ciencias Médicas "Mariana Grajales Coello". Holguín.

Keywords:

BLEPHAROPHIMOSIS, BLEPHAROPTOSIS

Abstract

Blepharophimosis syndrome is a genetic disease characterized by a shortening of the palpebral fissure or blepharophimosis, associated to ptosis and epicanthus inversus in most cases. The disease is transmitted in an autosomal dominant form with two well-identified clinical types. This is a presentation of a case of a family with three members affected: father and his two sons, referred from ophthalmology specialty because of palpebral ptosis. The clinical method was applied through the comparative or pattern technique. There was emphasis on the importance of delineating the phenotype for an early clinical diagnosis, a right comprehensive and multidisciplinary assessment, providing appropriate genetic counseling to the family.

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Author Biography

Elayne Esther Santana Hernández, Centro Provincial de Genética Médica. Holguín. Universidad de Ciencias Médicas "Mariana Grajales Coello". Holguín.

Especialista de Primer en Medicina General Integral y Segundo Grado en Genética Clínica. Master en Atención Integral al Niño. Investigador Agregado. Porfesor Asistente.

References

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Published

2016-02-03

How to Cite

1.
Santana Hernández EE, Tamayo Chang VJ. A family affected with Blepharophimosis syndrome. Rev. electron. Zoilo [Internet]. 2016 Feb. 3 [cited 2025 Sep. 17];41(2). Available from: https://revzoilomarinello.sld.cu/index.php/zmv/article/view/623

Issue

Vol. 41 No. 2 (2016): February

Section

Case reports

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