Osteogenesis imperfecta (OI), colloquially known as “brittle bone disease,” is a broad term for a group of congenital disorders affecting the connective tissue resulting in a susceptibility to fractures. In 1979, Sillence et al. conducted an epidemiological and genetic study of OI patients [1]. These patients were grouped according to four distinct syndromes: (1) dominantly inherited OI with blue sclerae, (2) lethal perinatal OI with radiographically crumpled femora and beaded ribs, (3) progressively deforming OI with normal sclerae, or (4) dominantly inherited OI with normal sclerae [1]. These groupings would later become the clinical features in identifying OI types I–IV. Since then, additional types of OI have been classified based on allelic heterogeneity, histological variance, radiological features, and clinical manifestations (Table 1).

In studies conducted in Europe and the US, the birth prevalence of OI was estimated to be 0.3–0.7 per 10,000 births [2, 3]. Incidence in males and females is roughly equal. The pathophysiology for OI type I is characterized by mutations in the genes for proα1 chains on COL1A1 on chromosome 17 or for proα2 chains on COL1A2 on chromosome 7 [4]. The prominence of type I collagen in the extracellular matrix of bones and skin results in patients with OI having qualitative or quantitative defects. In OI type I, individuals have quantitative defects in their normal type I collagen in that the collagen is functionally normal but produced in smaller quantities. Individuals with qualitative defects produce structurally defective type I collagen resulting in moderate deformations as seen in OI type IV, to severe deformation as seen in OI type III, and can even be lethal in OI type II [5].

Clinically, patients with OI type I present with an increased risk of bone fractures due to fragile bone, osteoporosis, blue sclerae, short stature, joint hypermobility, and susceptibility to conductive hearing loss progressing from adolescence to adulthood [6]. OI type I can be further categorized based on the presence, Ia, or absence, Ib, of dentinogenesis imperfecta (DI) [7]. Patients with DI will have opalescent teeth due to abnormal dentin exposure through the translucent enamel with a variable blue-gray or yellow-brown hue. Radiographical features of dentinogenesis imperfecta include deposition of dentin resulting in a marked reduction of the pulp chamber and root canals, short roots with constricted corono-radicular junctions, and bulbous crowns [8, 9]. Improper dentin formation predisposes patients to an increased risk of dental fractures and increased wear on teeth, subsequently requiring corrective dental procedures [10]. Navigating treatment options for patients with OI type I pose many challenges for dental professionals. In particular, successful dental implant treatment is difficult to achieve due to requiring strong, dense bone for acceptance of the implant. To avoid implant failure, patients must maintain routine oral care in addition to closely monitoring bone healing around the implant site. Implant treatment is even more challenging if the patient is prescribed bisphosphonates. These drugs are often administered to reduce osteoclast activity to limit bone resorption, subsequently improve bone microarchitecture, and bone density and correct vertebral size and shape [11,12,13]. One randomized, double-blind, placebo-controlled trial on the effectiveness of Risedronate in children with OI showed a significant reduction in the risk of fractures [13]. While bisphosphonate treatment may assist in the prevention of long bone fractures, it can be a detriment in the oral restoration process.

In this report, we focus on the 3-year dental implant therapy and restorative process of a 53-year-old male patient diagnosed with OI type I.