Osteogenesis imperfecta: Diagnosis and management of an orphan disease in a Peruvian regional hospital. A case report

Authors

  • Dercy Centeno-Leguía Escuela Profesional de Medicina Humana, Universidad Nacional de San Cristóbal de Huamanga. Ayacucho, Perú. Sociedad Científica Medico Estudiantil San Cristóbal. Ayacucho, Perú.
  • Ciro J. Atauje-Trillo Escuela Profesional de Medicina Humana, Universidad Nacional de San Cristóbal de Huamanga. Ayacucho, Perú.Hospital Regional de Ayacucho. Ayacucho, Perú.

DOI:

https://doi.org/10.20453/rmh.v32i2.3985

Abstract

Osteogenesis imperfecta is a rare autosome dominant disease in which there are anomalies in the synthesis of collagen affecting the connective tissue leading to multiple fractures. We present the case of a 38-week newborn from Pichari born of a cesarean section who presented respiratory failure. The patient presented crackles on the joints and was diagnosed on clinical grounds of osteogenesis imperfecta.

Downloads

Download data is not yet available.

Downloads

Published

2021-07-19

How to Cite

1.
Centeno-Leguía D, Atauje-Trillo CJ. Osteogenesis imperfecta: Diagnosis and management of an orphan disease in a Peruvian regional hospital. A case report. Rev Méd Hered [Internet]. 2021 Jul. 19 [cited 2025 Feb. 3];32(2):113-8. Available from: http://44.198.254.164/index.php/RMH/article/view/3985

Issue

Vol. 32 No. 2 (2021): April-June

Section

CASE REPORTS

License

Authors assign their rights to the RMH so that may disseminate the article through the means at their disposal. The journal will provide forms of affidavit of authorship and authorization for the publication of the article, which shall be submitted with the manuscript. Authors retain the right to share, copy, distribute, perform and publicly communicate their article, or part of it, mentioning the original publication in the journal.