Osteogenesis Imperfecta in a Newborn: Case Report and Review of the Literature

Authors

  • Ango S Department of Paediatrics, Federal Medical Centre, Keffi, Nasarawa State, Nigeria
  • Fatunke ET Department of Paediatrics, Federal Medical Centre, Keffi, Nasarawa State, Nigeria
  • Jemide OO Department of Paediatrics, Federal Medical Centre, Keffi, Nasarawa State, Nigeria

Keywords:

Osteogenesis imperfecta, brittle bone disease, genetic skeletal disorder, neonate

Abstract

Osteogenesis imperfecta (OI) is a group of genetic skeletal disorders characterized by skeletal fragility mostly due to structural or quantitative defects in type 1 collagen. The diagnosis is often based on clinical and radiologic features, especially, in resource constrained settings.

We report the case of a term, female neonate who was delivered to a 20-year-old primipara and presented to the Neonatal Unit of Federal Medical Centre, Keffi, with respiratory distress and short deformed limbs that were noticed at birth. Radiographs revealed multiple long bone fractures and thin ribs which supported the diagnosis of osteogenesis imperfecta.

Multidisciplinary management was instituted and the infant was discharged home after 6 days on admission with resolution of the respiratory problems. She is currently being followed-up at the clinic.

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Published

2023-03-14

Issue

Vol. 3 No. 1 (2023): Journal of Perinatal and Neonatal Care Vol 3 No 1 2023

Section

Case report