Fragile and Brittle Bone Disease or Osteogenesis Imperfecta: A Case Report

Abstract

A bstract Aim and objective The aim and objective of this report is to describe the dental management of 11-year-old patient with type III osteogenesis imperfecta (OI). Background Osteogenesis imperfecta or brittle bone disease is caused by mutations in the collegen type I gene which is a heterogeneous rare connective tissue disorder. Dentinogenesis imperfecta, hearing impairment, scoliosis, sclera is blue, hyperlaxity of ligaments, and fragile skin are other common features. Individuals having positive family history suggest a straightforward diagnosis of OI but can be difficult in the absence of affected family. Case description We report a case of 11-year-old boy, with a chief complaint of pain and swelling on the lower left back tooth region which was associated with extraoral draining sinus. His medical history revealed multiple fractures sustained during routine handling. On examination, the child was pale, dyspneic, with rhizomelic dwarfism, and relative macrocephaly with frontal bossing. On the grounds of history taken, clinical examination and respective investigations carried out, we came to a conclusion of osteogenesis imperfect type III. As the child needs a special care, we planned for a conservative treatment approach. Conclusion The craniofacial abnormalities in OI-III affected person's impact on their dentofacial appearance and masticatory function. A detailed dental and craniofacial investigation is necessary in affected persons in order to identify any primary or secondary abnormalities. As soon as the deciduous teeth erupt, patients with OI should be evaluated with adequate dental treatment and oral hygiene instructions in order to reduce the need for extensive treatment. Clinical significance Although oral manifestations are seldom seen, dentist should be extremely alert while managing this fragile bone disease. Early diagnosis, increased awareness, and effective treatment plan will reduce the effects of this debilitating disease. An ounce of prevention is worth a pound of cure, especially when something has no cure. How to cite this article Krishnamurthy NH, Chikkanarasaiah N, Nanjappa A, et al. Fragile and Brittle Bone Disease or Osteogenesis Imperfecta: A Case Report. Int J Clin Pediatr Dent 2020;13(4):425–428.

Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients

“…This feature is considered a frequent manifestation in OI patients since collagen molecules are protein components of the extracellular matrix of the skin ( 9 ). Nevertheless, until the present study, a clear incidence of this trait has not been defined in large patient cohorts and has been mainly considered in case reports ( 27 ).…”