OSTEOGENESIS IMPERFECTA WITH MULTIPLE LONG-BONE FRACTURES, CRANIOFACIAL DYSPLASIA, AND SUPERIMPOSED BRONCHOPNEUMONIA IN A 4-MONTH-OLD INFANT

Abstract

Osteogenesis imperfecta (OI) is a heritable disorder of type I collagen synthesis characterised by bone fragility, recurrent fractures, and variable extraskeletal manifestations. We describe a 4-month-old male infant with an antenatally suspected, and subsequently clinically and radiologically supported, diagnosis of severe OI, who presented with multiple long-bone fractures at birth, progressive macrocephaly with radiological features suggestive of syndromic craniosynostosis, and an acute admission for bronchopneumonia. Echocardiography revealed asymmetric septal hypertrophy, moderate mitral regurgitation, and mild pulmonary hypertension. This case illustrates the multisystem surveillance required in severe early-onset OI — skeletal, respiratory, cardiac, and neurodevelopmental — and the practical challenges of initiating bisphosphonate therapy in a very young infant with difficult vascular access. An attempt to initiate intravenous bisphosphonate therapy was limited by difficulty obtaining reliable vascular access. The infant was subsequently referred to a specialist centre for further management and planning of intravenous bisphosphonate therapy.

Keywords: Osteogenesis Imperfecta, Craniosynostosis, Bisphosphonates, Paediatric Cardiology, Respiratory Tract Infections, Cole-Carpenter Syndrome