TY - JOUR
T1 - Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta – Genotypic and phenotypic determinants
AU - Members of the BBDC
AU - Marulanda, Juliana
AU - Retrouvey, Jean Marc
AU - Lee, Brendan
AU - Sutton, V. Reid
AU - Lee, Brendan
AU - Sutton, V. Reid
AU - Nagamani, Sandesh C.S.
AU - Rauch, Frank
AU - Glorieux, Francis
AU - Retrouvey, Jean Marc
AU - Lee, Janice
AU - Esposito, Paul
AU - Wallace, Maegen
AU - Bober, Michael
AU - Eyre, David
AU - Gomez, Danielle
AU - Harris, Gerald
AU - Hart, Tracy
AU - Jain, Mahim
AU - Krakow, Deborah
AU - Krischer, Jeffrey
AU - Orwoll, Eric
AU - Nicol, Lindsey
AU - Raggio, Cathleen
AU - Smith, Peter
AU - Tosi, Laura
AU - Rauch, Frank
AU - Briner, Michelle
N1 - Publisher Copyright:
© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
PY - 2024/4
Y1 - 2024/4
N2 - Introduction: Cranio-cervical anomalies are significant complications of osteogenesis imperfecta (OI), a rare bone fragility disorder that is usually caused by mutations in collagen type I encoding genes. Objective: To assess cranio-cervical anomalies and associated clinical findings in patients with moderate-to-severe OI using 3D cone beam computed tomography (CBCT) scans. Methods: Cross-sectional analysis of CBCT scans in 52 individuals with OI (age 10–37 years; 32 females) and 40 healthy controls (age 10–32 years; 26 females). Individuals with a diagnosis of OI type III (severe, n = 11), type IV (moderate, n = 33) and non-collagen OI (n = 8) were recruited through the Brittle Bone Disorders Consortium. Controls were recruited through the orthodontic clinic of the University of Missouri-Kansas City (UMKC). Results: OI and control groups were similar in mean age (OI: 18.4 [SD: 7.2] years, controls: 18.1 [SD: 6.3] years). The cranial base angle was increased in the OI group (OI: mean 148.6° [SD: 19.3], controls: mean 130.4° [SD: 5.7], P =.001), indicating a flatter cranial base. Protrusion of the odontoid process into the foramen magnum (n = 7, 14%) and abnormally located odontoid process (n = 19, 37%) were observed in the OI group but not in controls. Low stature, expressed as height z-score (P =.01), presence of DI (P =.04) and being male (P =.04) were strong predictors of platybasia, whereas height z-score (P =.049) alone was found as positive predictor for basilar impression as per the Chamberlain measurement. Conclusion: The severity of the phenotype in OI, as expressed by the height z-score, correlates with the severity of cranial base anomalies such as platybasia and basilar impression in moderate-to-severe OI. Screening for cranial base anomalies is advisable in individuals with moderate-to-severe OI, with special regards to the individuals with a shorter stature and DI.
AB - Introduction: Cranio-cervical anomalies are significant complications of osteogenesis imperfecta (OI), a rare bone fragility disorder that is usually caused by mutations in collagen type I encoding genes. Objective: To assess cranio-cervical anomalies and associated clinical findings in patients with moderate-to-severe OI using 3D cone beam computed tomography (CBCT) scans. Methods: Cross-sectional analysis of CBCT scans in 52 individuals with OI (age 10–37 years; 32 females) and 40 healthy controls (age 10–32 years; 26 females). Individuals with a diagnosis of OI type III (severe, n = 11), type IV (moderate, n = 33) and non-collagen OI (n = 8) were recruited through the Brittle Bone Disorders Consortium. Controls were recruited through the orthodontic clinic of the University of Missouri-Kansas City (UMKC). Results: OI and control groups were similar in mean age (OI: 18.4 [SD: 7.2] years, controls: 18.1 [SD: 6.3] years). The cranial base angle was increased in the OI group (OI: mean 148.6° [SD: 19.3], controls: mean 130.4° [SD: 5.7], P =.001), indicating a flatter cranial base. Protrusion of the odontoid process into the foramen magnum (n = 7, 14%) and abnormally located odontoid process (n = 19, 37%) were observed in the OI group but not in controls. Low stature, expressed as height z-score (P =.01), presence of DI (P =.04) and being male (P =.04) were strong predictors of platybasia, whereas height z-score (P =.049) alone was found as positive predictor for basilar impression as per the Chamberlain measurement. Conclusion: The severity of the phenotype in OI, as expressed by the height z-score, correlates with the severity of cranial base anomalies such as platybasia and basilar impression in moderate-to-severe OI. Screening for cranial base anomalies is advisable in individuals with moderate-to-severe OI, with special regards to the individuals with a shorter stature and DI.
KW - cone-beam computed tomography
KW - cranio-cervical abnormalities
KW - genotypic and phenotypic determinants
KW - osteogenesis imperfecta
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U2 - 10.1111/ocr.12707
DO - 10.1111/ocr.12707
M3 - Article
C2 - 37642979
AN - SCOPUS:85182852497
SN - 1601-6335
VL - 27
SP - 237
EP - 243
JO - Orthodontics and Craniofacial Research
JF - Orthodontics and Craniofacial Research
IS - 2
ER -