TY - JOUR
T1 - Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V
AU - Members of the BBD Consortium
AU - Retrouvey, Jean Marc
AU - Taqi, Doaa
AU - Tamimi, Faleh
AU - Dagdeviren, Didem
AU - Glorieux, Francis H.
AU - Lee, Brendan
AU - Hazboun, Renna
AU - Krakow, Deborah
AU - Sutton, V. Reid
AU - Bober, Michael
AU - Esposito, Paul
AU - Eyre, David R.
AU - Gomez, Danielle
AU - Harris, Gerald
AU - Hart, Tracy
AU - Jain, Mahim
AU - Krisher, Jeffrey
AU - Nagamani, Sandesh CS
AU - Orwoll, Eric S.
AU - Raggio, Cathleen L.
AU - Rush, Eric
AU - Smith, Peter
AU - Tosi, Laura
AU - Rauch, Frank
N1 - Funding Information:
We are grateful to Jane Atkinson (National Institutes of Health) for helpful suggestions. This study was performed as an activity of the Brittle Bone Disease Consortium. The Brittle Bone Disease Consortium (1U54AR068069-0) is a National Center for Advancing Translational Sciences Rare Diseases Clinical Research Network (RDCRN), and is funded through a collaboration between the Office of Rare Diseases Research (ORDR), NCATS, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the National Institute of Dental and Craniofacial Research. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The study was also supported by the Shriners of North America. None of the authors declares a conflict of interest.
Funding Information:
We are grateful to Jane Atkinson ( National Institutes of Health ) for helpful suggestions. This study was performed as an activity of the Brittle Bone Disease Consortium. The Brittle Bone Disease Consortium ( 1U54AR068069-0 ) is a National Center for Advancing Translational Sciences Rare Diseases Clinical Research Network (RDCRN) , and is funded through a collaboration between the Office of Rare Diseases Research (ORDR) , NCATS, the National Institute of Arthritis and Musculoskeletal and Skin Diseases , and the National Institute of Dental and Craniofacial Research . The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The study was also supported by the Shriners of North America . None of the authors declares a conflict of interest.
Publisher Copyright:
© 2018 Elsevier Masson SAS
PY - 2019/12
Y1 - 2019/12
N2 - 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.
AB - 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.
KW - Craniofacial
KW - Dental
KW - Fractures
KW - IFITM5
KW - Oligodontia
KW - Osteogenesis imperfecta
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U2 - 10.1016/j.ejmg.2018.12.011
DO - 10.1016/j.ejmg.2018.12.011
M3 - Article
C2 - 30593885
AN - SCOPUS:85060483102
VL - 62
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
IS - 12
M1 - 103606
ER -