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 - 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
SN - 1769-7212
VL - 62
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 12
M1 - 103606
ER -