Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V

Dental phenotype in an adolescent with osteogenesis imperfecta type XII

“…For OI due to mutations in collagen 1, DI is predominantly observed in those with qualitative collagen defects with moderate–severe OI rather than those having quantitative defects with mild OI 5. Discolouration of teeth, cervical constriction and pulp obliteration were reported as frequent findings in patients with moderate–severe OI, yet these features vary between different OI populations 5–8. DI affects both dentitions, but the primary dentition is usually more severely affected than the permanent dentition,9 and this corresponded to our observation in our patient.…”

“…Other than DI, tooth agenesis is a also common observation in OI and could contribute to mandibular and maxillary dysplasia, which could lead to dental malocclusion 10 11. Retained deciduous teeth past the normal range of exfoliation, retention of molar teeth or impaction of permanent teeth has been reported in various OI types, including classical OI due to mutations in collagen type 1, as well as OI type V 12 13. However, it has not been reported in OI type XII.…”

Malocclusion in individuals with osteogenesis imperfecta: A systematic review and meta‐analysis

“…Despite the low level of evidence, meta‐analyses revealed that individuals with OI were more likely to have Class III malocclusion and had a smaller measure of the ANB and SNA angle compared to individuals without OI. Individuals with OI have a hypoplastic and retracted maxilla in relation to the skull base (Bendixen et al., 2018; Chetty et al., 2017; Jabbour et al., 2018; Retrouvey et al., 2018; Schwartz & Tsipouras, 1984). The anatomy of the maxilla and the more posterior position of this bone in relation to the skull base are responsible for the skeletal Class III relationship.…”

“…Corroborating the findings of the meta‐analyses, genetic sequencing studies of individuals with class III malocclusion show a relationship between mandibular prognathism and changes in the genes that encode collagen (Singh, 1999). It is also common for individuals with OI to have reduced linear vertical measurements of the face (S‐GO, N‐Me, A‐Me) and loss of the vertical dimension of occlusion (Chang et al., 2007; Retrouvey et al., 2018; Schwartz & Tsipouras, 1984; Waltimo‐Sirén et al., 2005). These characteristics can favor a pattern of mandibular growth in a counterclockwise direction to compensate for the reduced lower anterior facial height (Reznikov et al., 2019).…”

“…This may be associated with the Class III malocclusion (Doraczynska‐Kowalik et al., 2017). The disharmony in bone growth of the maxilla and the mandible may exacerbate the anterior crossbite (O'Connell & Marini, 1999; Okawa et al., 2017; Retrouvey et al., 2018). With a small or inadequate sagittal relation between the maxilla and mandible, the maxillary incisors present themselves with a lingual position in relation to the mandibular anterior teeth, causing anterior crossbite.…”