Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants.
cone-beam computed tomography
cranio-cervical abnormalities
genotypic and phenotypic determinants
osteogenesis imperfecta
Journal
Orthodontics & craniofacial research
ISSN: 1601-6343
Titre abrégé: Orthod Craniofac Res
Pays: England
ID NLM: 101144387
Informations de publication
Date de publication:
29 Aug 2023
29 Aug 2023
Historique:
revised:
11
08
2023
received:
16
06
2023
accepted:
16
08
2023
medline:
29
8
2023
pubmed:
29
8
2023
entrez:
29
8
2023
Statut:
aheadofprint
Résumé
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. To assess cranio-cervical anomalies and associated clinical findings in patients with moderate-to-severe OI using 3D cone beam computed tomography (CBCT) scans. 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). 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. 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.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Organisme : The Brittle Bone Disease Consortium
Investigateurs
Brendan Lee
(B)
V Reid Sutton
(VR)
Sandesh C S Nagamani
(SCS)
Frank Rauch
(F)
Francis Glorieux
(F)
Jean-Marc Retrouvey
(JM)
Janice Lee
(J)
Paul Esposito
(P)
Maegen Wallace
(M)
Michael Bober
(M)
David Eyre
(D)
Danielle Gomez
(D)
Gerald Harris
(G)
Tracy Hart
(T)
Mahim Jain
(M)
Deborah Krakow
(D)
Jeffrey Krischer
(J)
Eric Orwoll
(E)
Lindsey Nicol
(L)
Cathleen Raggio
(C)
Peter Smith
(P)
Laura Tosi
(L)
Informations de copyright
© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
Rauch F, Glorieux FH. Osteogenesis imperfecta. The Lancet. 2004;363(9418):1377-1385.
Robinson ME, Rauch D, Glorieux FH, Rauch F. Standardized growth charts for children with osteogenesis imperfecta. Pediatr Res. 2023;94(3):1075-1082.
Rauch F, Lalic L, Roughley P, Glorieux FH. Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. Eur J Hum Genet. 2010;18(6):642-647.
Trejo P, Rauch F. Osteogenesis imperfecta in children and adolescents-new developments in diagnosis and treatment. Osteoporos Int. 2016;27(12):3427-3437.
Tauer JT, Robinson ME, Rauch F. Osteogenesis imperfecta: new perspectives from clinical and translational research. JBMR Plus. 2019;3(8):e10174.
Marom R, Rabenhorst BM, Morello R. Osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. 2020;183(4):R95-R106.
Rizkallah J, Schwartz S, Rauch F, et al. Evaluation of the severity of malocclusions in children affected by osteogenesis imperfecta with the peer assessment rating and discrepancy indexes. Am J Orthod Dentofacial Orthop. 2013;143(3):336-341.
Waltimo-Siren J, Kolkka M, Pynnonen S, Kuurila K, Kaitila I, Kovero O. Craniofacial features in osteogenesis imperfecta: a cephalometric study. Am J Med Genet A. 2005;133A(2):142-150.
Reznikov N, Dagdeviren D, Tamimi F, Glorieux F, Rauch F, Retrouvey JM. Cone-beam computed tomography of osteogenesis imperfecta types III and IV: three-dimensional evaluation of craniofacial features and upper airways. JBMR Plus. 2019;3(6):e10124.
Cheung MS, Arponen H, Roughley P, et al. Cranial base abnormalities in osteogenesis imperfecta: phenotypic and genotypic determinants. J Bone Miner Res. 2011;26(2):405-413.
Kovero O, Pynnonen S, Kuurila-Svahn K, Kaitila I, Waltimo-Siren J. Skull base abnormalities in osteogenesis imperfecta: a cephalometric evaluation of 54 patients and 108 control volunteers. J Neurosurg. 2006;105(3):361-370.
Sudhakar V, Sekula RF Jr. Retrosigmoid microvascular decompression as a treatment for trigeminal neuralgia in a patient with osteogenesis imperfecta. Br J Neurosurg. 2021;1-3.
Sillence DO. Craniocervical abnormalities in osteogenesis imperfecta: genetic and molecular correlation. Pediatr Radiol. 1994;24:427-430.
Pinter NK, McVige J, Mechtler L. Basilar invagination, basilar impression, and platybasia: clinical and imaging aspects. Curr Pain Headache Rep. 2016;20(8):49.
Koenigsberg RA, Vakil N, Hong TA, et al. Evaluation of platybasia with MR imaging. AJNR Am J Neuroradiol. 2005;26(1):89-92.
Tanrisever S, Orhan M, Bahsi I, Yalcin ED. Anatomical evaluation of the craniovertebral junction on cone-beam computed tomography images. Surg Radiol Anat. 2020;42(7):797-815.
Cronin CG, Lohan DG, Mhuircheartigh JN, Meehan CP, Murphy JM, Roche C. MRI evaluation and measurement of the normal odontoid peg position. Clin Radiol. 2007;62(9):897-903.
Ogden CL, Kuczmarski RJ, Flegal KM, et al. Centers for Disease Control and Prevention 2000 growth charts for the United States: improvements to the 1977 National Center for Health Statistics version. Pediatrics. 2002;109(1):45-60.
Ahlqvist J, Eliasson S, Welander U. The effect of projection errors on cephalometric length measurements. Eur J Orthod. 1986;8(3):141-148.
Houston WJ, Maher RE, McElroy D, Sherriff M. Sources of error in measurements from cephalometric radiographs. Eur J Orthod. 1986;8(3):149-151.
Demes B. Biomechanics of the primate skull base. Adv Anat Embryol Cell Biol. 1985;94:1-59.
Chen YF, Liu HM. Imaging of craniovertebral junction. Neuroimaging Clin N Am. 2009;19(3):483-510.
Jain M, Tam A, Shapiro JR, et al. Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Genet Med. 2019;21(2):275-283.
Taqi D, Moussa H, Schwinghamer T, et al. Osteogenesis imperfecta tooth level phenotype analysis: cross-sectional study. Bone. 2021;147:115917.
Henderson FC Sr, Henderson FC Jr, WAt W, Mark AS, Koby M. Utility of the clivo-axial angle in assessing brainstem deformity: pilot study and literature review. Neurosurg Rev. 2018;41(1):149-163.
Hallett SA, Ono W, Franceschi RT, Ono N. Cranial base synchondrosis: chondrocytes at the hub. Int J Mol Sci. 2022;23(14):7817.