Dental and facial characteristics of osteogenesis imperfecta type V

Retrouvey, J.-M.; Taqi, D.; Tamimi, F.; Dagdeviren, D.; Glorieux, F. H.; Lee, B.; Hazboun, R.; Krakow, D.; Sutton, R.; Members of the BBD Consortium,; Rauch, F.

doi:10.1101/413633

bioRxiv · 10.1101/413633

Dental and facial characteristics of osteogenesis imperfecta type V

Retrouvey, J.-M.·Taqi, D.·Tamimi, F.·Dagdeviren, D.·Glorieux, F. H.·Lee, B.·Hazboun, R.·Krakow, D.·Sutton, R.·Members of the BBD Consortium,·Rauch, F.

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Abstract

Osteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the heterozygous c.-14C>T mutation in IFITM5. The dental and craniofacial phenotype has not been described in detail. In the present multicenter study (Brittle Bone Disease Consortium) 14 individuals with OI type V (age 3 to 50 years; 10 females, 4 males) underwent dental and craniofacial assessment. None of the individuals had dentinogenesis imperfecta. Six of the 9 study participants (66%) for whom panoramic radiographs were obtained had at least one missing tooth (range 1 to 9). Class II molar occlusion was present in 8 (57%) of the 14 study participants. The facial profile was retrusive and lower face height was decreased in 8 (57%) individuals. Cephalometry, performed in three study participants, revealed a severely retrusive maxilla and mandible, and poorly angulated incisors in a 14-year old girl, a protrusive maxilla and a retrusive mandible in a 14-year old boy. Cone beam computed tomograpy scans were obtained from two study participants and demonstrated intervertebral disc calcification at the C2-C3 level in one individual. Our study observed that OI type V is associated with missing permanent teeth, especially permanent premolar, but not with dentinogenesis imperfecta. The pattern of craniofacial abnormalities in OI type V thus differs from that in other severe OI types, such as OI type III and IV, and could be described as a bimaxillary retrusive malocclusion with reduced lower face height and multiple missing teeth.

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Retrouvey, J.-M., Taqi, D., Tamimi, F., Dagdeviren, D., Glorieux, F. H., Lee, B., Hazboun, R., Krakow, D., Sutton, R., Members of the BBD Consortium,, Rauch, F.. 2018-09-11. Dental and facial characteristics of osteogenesis imperfecta type V. https://doi.org/10.1101/413633

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