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.

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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 2024 Jul. 22];32(2):113-8. Available from: https://revistas.upch.edu.pe/index.php/RMH/article/view/3985

Issue

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

Section

CASE REPORTS

License

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