Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V |
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| Authors: | Jean-Marc Retrouvey Doaa Taqi Faleh Tamimi Didem Dagdeviren Francis H. Glorieux Brendan Lee Renna Hazboun Deborah Krakow V. Reid Sutton |
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| Affiliation: | 6. Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA;7. University of Nebraska Medical Center, Omaha, NE, USA;8. Department of Orthopedic and Sports Medicine, University of Washington, Seattle, WA, USA;9. Shriners Hospital for Children – Tampa, Tampa, FL, USA;10. Shriners Hospital for Children – Chicago, Chicago, IL, USA;11. Osteogenesis Imperfecta Foundation, Gaithersburg, MD, USA;12. Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada;13. Health Informatics Institute, Morsani College of Medicine, University of South Florida, Tampa, FL, USA;14. Department of Medicine, Division of Endocrinology, Oregon Health Sciences University, Portland, OR, USA;15. Hospital for Special Surgery, New York, NY, USA;p. Bone Health Program, Children''s National Health System, Washington, DC, USA;1. Faculty of Dentistry, McGill University, Montreal, Quebec, Canada;2. Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada;3. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA;4. UCLA School of Dentistry, Los Angeles, CA, USA;5. Department of Orthopedic Surgery, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA |
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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 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. |
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| Keywords: | Members of the BBD Consortium Osteogenesis imperfecta Craniofacial Oligodontia Dental Fractures |
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