Síndrome de Bardet-Bieldet. Reporte de un caso

Authors

  • Humberto Osorio Mariño
  • Francisco Ávila Riopedre
  • Carlos M. Sarduy
  • Carlos E. Arévalos

Abstract

Se presentan los hallazgos clínicos y de laboratorio de un paciente con síndrome de Bardet-Biedl. Los primeros síntomas aparecieron durante la adolescencia lo cual admite un modo de herencia autonómica recesiva. Al examen físico se constató polidactilia axial de manos y pies, retinosis pigmentaria, obesidad troncular, retraso mental e hipogonadismo, también se encontró diabetes mellitus no insulino dependiente, hipertensión arterial e insuficiencia renal crónica terminal. Se concluyó que esta enfermedad de inicio temprano en la vida puede causar ceguera en la adolescencia y fallo renal crónico en la edad adulta.

Downloads

Download data is not yet available.

Downloads

Published

2014-12-16

How to Cite

1.
Osorio Mariño H, Ávila Riopedre F, Sarduy CM, Arévalos CE. Síndrome de Bardet-Bieldet. Reporte de un caso. Arch méd Camagüey [Internet]. 2014 Dec. 16 [cited 2025 Dec. 22];10(2). Available from: https://revistaamc.sld.cu/index.php/amc/article/view/2892

Issue

Vol. 10 No. 2 (2006)

Section

Case Reports

License

Copyright: Camagüey Medical Archive Magazine, offers immediately after being indexed in the SciELO Project; Open access to the full text of the articles under the principle of making available and free the research to promote the exchange of global knowledge and contribute to a greater extension, publication, evaluation and extensive use of the articles that can be used without purpose As long as reference is made to the primary source.

Conflicts of interest: authors must declare in a mandatory manner the presence or not of conflicts of interest in relation to the investigation presented.

(Download Statement of potential conflicts of interest)

The Revista Archivo Médico de Camagüey is under a License Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 International (CC BY 4.0).

This license allows others to distribute, to mix, to adjust and to build from its work, even for commercial purposes, as long as it is recognized the authorship of the original creation. This is the most helpful license offered. Recommended for maximum dissemination and use of licensed materials. The full license can be found at: https://creativecommons.org/licenses/