Osteogenesis imperfecta Type XI: A rare cause of severe infantile cervical kyphosis

Abstract

Osteogenesis imperfecta is a genetic disorder by bone fragility and decreased bone density. Ligamentous laxity is also a feature. We present a case report of a very young, nonmobile infant of 5 months who initially presented with a tibial fracture, and during a skeletal survey, was found to have other features consistent with osteogenesis imperfecta, including rib fractures of different ages, and multiple Wormian bones within the skull. The skeletal survey also revealed a severe cervical kyphosis, unusual in both osteogenesis imperfecta, and this age group. This presented a significant management challenge in such a young patient, and both computed tomography and magnetic resonance imaging were utilised to further characterise the bony anatomy, degree of kyphosis, spinal canal stenosis, and to visualise the spinal cord. The patient was treated with surgical reduction and an Aspen collar in a tertiary centre. Subsequent genetic testing was consistent with a diagnosis of compound heterozygous osteogenesis imperfecta Type XI.