Abstract

CENTENO-LEGUIA, Dercy  and  ATAUJE-TRILLO, Ciro J.. Osteogenesis imperfecta: Diagnosis and management of an orphan disease in a Peruvian regional hospital. A case report. Rev Med Hered [online]. 2021, vol.32, n.2, pp.113-118. ISSN 1018-130X.  http://dx.doi.org/10.20453/rmh.v32i2.3985.

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.

Keywords : Osteogenesis imperfecta; genetics; newborn; Peru.

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