Familial blepharophimosis syndrome: study of two colombian families and two sporadic cases

Authors

  • José Luis Ramírez Castro Universidad de Antioquia

DOI:

https://doi.org/10.17533/udea.iatreia.3356

Keywords:

Blepharophimosis, blepharoptosis, Epicanthus Inversus, Telecanthus, Dermatoglyphics

Abstract

The blepharophimosis syndrome includes several associated anomalies, namely: blepharophimosis, blepharoptosis, epicanthus inversus and telecanthus. It is inherited as an autosomal dominant defect with essentially 100% penetrance. To the nearly 180 previously reported cases our report adds another 25 occurring in two colombian families through 3 and 4 generations (23 cases) and in 2 sporadic cases. Some related clinical, embryological and genetic aspects of this syndrome are discussed.

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Author Biography

José Luis Ramírez Castro, Universidad de Antioquia

Profesor, Unidad de Gen ética Médica, Departamento de Morfología, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.

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Published

1989-02-02

How to Cite

1.
Ramírez Castro JL. Familial blepharophimosis syndrome: study of two colombian families and two sporadic cases. Iatreia [Internet]. 1989 Feb. 2 [cited 2025 Feb. 12];2(2):pág. 100-110. Available from: https://revistas.udea.edu.co/index.php/iatreia/article/view/3356

Issue

Vol 2, No 2

Section

Original research

License

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