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

• Published in: European journal of medical genetics 2019-12, Vol.62 (12), p.103606-103606, Article 103606
• Main Authors: Retrouvey, Jean-Marc, Taqi, Doaa, Tamimi, Faleh, Dagdeviren, Didem, Glorieux, Francis H., Lee, Brendan, Hazboun, Renna, Krakow, Deborah, Sutton, V. Reid, Bober, Michael, Esposito, Paul, Eyre, David R., Gomez, Danielle, Harris, Gerald, Hart, Tracy, Jain, Mahim, Krisher, Jeffrey, Nagamani, Sandesh CS, Orwoll, Eric S., Raggio, Cathleen L., Rush, Eric, Smith, Peter, Tosi, Laura, Rauch, Frank
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Child; Child, Preschool; Craniofacial; Dental; Female; Fractures; Humans; IFITM5; Male; Middle Aged; Oligodontia; Osteogenesis imperfecta; Osteogenesis Imperfecta - diagnostic imaging; Osteogenesis Imperfecta - genetics; Osteogenesis Imperfecta - pathology; Phenotype
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2018.12.011

Osteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the heterozygous c.-14C > T mutation in IFITM5. The oro-dental and craniofacial phenotype has not been described in detail, which we therefore undertook to evaluate in a multicenter study (Brittle Bone Disease Consortium). Fourteen individuals with OI type V (age 3–50 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 1–9). 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 moderately to severly retroclined 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.