<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE root>
<article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns:ali="http://www.niso.org/schemas/ali/1.0/" article-type="review-article" dtd-version="1.2" xml:lang="en"><front><journal-meta><journal-id journal-id-type="publisher-id">Traumatology and Orthopedics of Russia</journal-id><journal-title-group><journal-title xml:lang="en">Traumatology and Orthopedics of Russia</journal-title><trans-title-group xml:lang="ru"><trans-title>Травматология и ортопедия России</trans-title></trans-title-group></journal-title-group><issn publication-format="print">2311-2905</issn><issn publication-format="electronic">2542-0933</issn><publisher><publisher-name xml:lang="en">Vreden National Medical Research Center of Traumatology and Orthopedics</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">1635</article-id><article-id pub-id-type="doi">10.17816/2311-2905-1635</article-id><article-categories><subj-group subj-group-type="toc-heading" xml:lang="en"><subject>Reviews</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="ru"><subject>Обзоры</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="zh"><subject>Reviews</subject></subj-group><subj-group subj-group-type="article-type"><subject>Review Article</subject></subj-group></article-categories><title-group><article-title xml:lang="en">Spine Pathologies in Osteogenesis Imperfecta: A Review</article-title><trans-title-group xml:lang="ru"><trans-title>Варианты патологии позвоночника у пациентов с несовершенным остеогенезом: обзор литературы</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-0816-1004</contrib-id><name-alternatives><name xml:lang="en"><surname>Shchurova</surname><given-names>Elena N.</given-names></name><name xml:lang="ru"><surname>Щурова</surname><given-names>Елена Николаевна</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Dr. Sci. (Biol.)</p></bio><bio xml:lang="ru"><p>д-р биол. наук, ведущий научный сотрудник научной лаборатории клиники патологии позвоночника и редких заболеваний</p></bio><email>elena.shurova@mail.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-8293-0521</contrib-id><name-alternatives><name xml:lang="en"><surname>Ryabykh</surname><given-names>Sergey O.</given-names></name><name xml:lang="ru"><surname>Рябых</surname><given-names>Сергей Олегович</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Dr. Sci. (Med.)</p></bio><bio xml:lang="ru"><p>д-р мед. наук, заведующий научной лабораторией Клиники патологии позвоночника и редких заболеваний</p></bio><email>rso_@mail.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-5172-4429</contrib-id><name-alternatives><name xml:lang="en"><surname>Ochirova</surname><given-names>Polina V.</given-names></name><name xml:lang="ru"><surname>Очирова</surname><given-names>Полина Вячеславовна</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Cand. Sci. (Med.)</p></bio><bio xml:lang="ru"><p>канд. мед. наук, врач-вертебролог научной лаборатории Клиники патологии позвоночника и редких заболеваний</p></bio><email>poleen@yandex.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-8996-867X</contrib-id><name-alternatives><name xml:lang="en"><surname>Popkov</surname><given-names>Dmitry A.</given-names></name><name xml:lang="ru"><surname>Попков</surname><given-names>Дмитрий Арнольдович</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>Dr. Sci. (Med.)</p></bio><bio xml:lang="ru"><p>д-р мед. наук, травматолог-ортопед, проф. РАН, член-кор. Французской академии наук, руководитель клиники нейроортопедии и системных заболеваний</p></bio><email>dpopkov@mail.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-9315-3035</contrib-id><name-alternatives><name xml:lang="en"><surname>Ryabykh</surname><given-names>Tatyana V.</given-names></name><name xml:lang="ru"><surname>Рябых</surname><given-names>Татьяна Викторовна</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="ru"><p>педиатр приемного отделения</p></bio><email>rtatav@rambler.ru</email><xref ref-type="aff" rid="aff1"/></contrib></contrib-group><aff-alternatives id="aff1"><aff><institution xml:lang="en">National Ilizarov Medical Research Center for Traumatology and Orthopedics</institution></aff><aff><institution xml:lang="ru">ФГБУ «Национальный медицинский исследовательский центр травматологии и ортопедии им. акад. Г.А. Илизарова» Минздрава России</institution></aff></aff-alternatives><pub-date date-type="preprint" iso-8601-date="2022-02-15" publication-format="electronic"><day>15</day><month>02</month><year>2022</year></pub-date><pub-date date-type="pub" iso-8601-date="2022-01-15" publication-format="electronic"><day>15</day><month>01</month><year>2022</year></pub-date><volume>28</volume><issue>1</issue><issue-title xml:lang="en"/><issue-title xml:lang="ru"/><issue-title xml:lang="zh"/><fpage>118</fpage><lpage>127</lpage><history><date date-type="received" iso-8601-date="2021-06-09"><day>09</day><month>06</month><year>2021</year></date><date date-type="accepted" iso-8601-date="2022-01-28"><day>28</day><month>01</month><year>2022</year></date></history><permissions><copyright-statement xml:lang="en">Copyright ©; 2022, Shchurova E.N., Ryabykh S.O., Ochirova P.V., Popkov D.A., Ryabykh T.V.</copyright-statement><copyright-statement xml:lang="ru">Copyright ©; 2022, Щурова Е.Н., Рябых С.О., Очирова П.В., Попков Д.А., Рябых Т.В.</copyright-statement><copyright-year>2022</copyright-year><copyright-holder xml:lang="en">Shchurova E.N., Ryabykh S.O., Ochirova P.V., Popkov D.A., Ryabykh T.V.</copyright-holder><copyright-holder xml:lang="ru">Щурова Е.Н., Рябых С.О., Очирова П.В., Попков Д.А., Рябых Т.В.</copyright-holder><ali:free_to_read xmlns:ali="http://www.niso.org/schemas/ali/1.0/"/><license><ali:license_ref xmlns:ali="http://www.niso.org/schemas/ali/1.0/">https://creativecommons.org/licenses/by/4.0</ali:license_ref></license></permissions><self-uri xlink:href="https://journal.rniito.org/jour/article/view/1635">https://journal.rniito.org/jour/article/view/1635</self-uri><abstract xml:lang="en"><p><bold><italic>Background. </italic></bold>The scientific and clinical interest in the problems of osteogenesis imperfecta (OI) has grown in the last decade. However, the analysis of various variants of spinal pathologies in OI received insufficient attention.</p> <p><bold><italic>The study aimed</italic></bold> to analyze the current literature on various variants of the spinal pathology in patients with OI. OI is a phenotypically and genetically heterogeneous group of hereditary bone dysplasias. The spine pathology in OI is represented by scoliosis, kyphoscoliosis, anomalies of the craniovertebral junction, instability of the segments and fractures of the vertebral bodies, spondylolysis, and spondylolisthesis. Scoliosis and kyphoscoliosis are the most common forms of spinal pathology. In severe forms and at age &gt;6 years, the prevalence of scoliosis can reach 89%. The exact mechanism of scoliosis formation in patients with OI is complex and incompletely defined. Anomalies of the craniovertebral junction are recorded in 37% of patients with OI and are determined in all four types of OI. Clinical manifestations of the craniocervical junction pathology can vary from asymptomatic to compression of the brainstem, restriction of cerebrospinal fluid circulation, leading to hydrocephalus, syringomyelia, and cranial nerve damage. The pathology of the lumbosacral spine is represented by spondylolysis and spondylolisthesis generally in the L5–S1 segment in 5.3%–10.9% of cases. The clinical significance and natural course of spondylolysis and spondylolisthesis in patients with OI are not fully defined in the literature, and the information on surgical indications and methods is available only in rare case reports. The changes in the axial skeleton in OI can lead to significant functional disability, pain, and potentially life-threatening complications, such as radicular neurological deficit, decrease in the ventilation capacity of the lungs, and cardiorespiratory complications. The overall severity of OI remains the best criterion for predicting the development of secondary spinal pathology. Given the generalization and heterogeneity of OI, an individual and multidisciplinary approach is necessary when diagnosing and planning the treatment strategy for this group of patients.</p></abstract><trans-abstract xml:lang="ru"><p><bold><italic>Актуальность. </italic></bold>В последнее десятилетие заметно вырос научный и клинический интерес к проблемам несовершенного остеогенеза (НО). Однако анализу различных вариантов патологии позвоночника при НО уделено недостаточно внимания.</p> <p><bold><italic>Цель</italic></bold> — анализ современной литературы по вопросам различных вариантов патологии позвоночника у пациентов с НО. Несовершенный остеогенез — фенотипически и генетически гетерогенная группа наследственных костных дисплазий. Патология позвоночника при НО представлена сколиозом, кифосколиозом, аномалиями краниовертебрального соединения, нестабильностью сегментов и переломами тел позвонков, спондилолизом и спондилолистезом. Наиболее распространенными формами патологии позвоночника являются сколиоз и кифосколиоз. При тяжелых формах и возрасте старше 6 лет распространенность сколиоза может достигать 89%. Точный механизм формирования сколиоза у пациентов с НО сложен и остается до конца не определенным. Аномалии краниовертебрального перехода регистрируются у 37% пациентов с НО, определяются при всех четырех типах НО. Клинические проявления патологии краниоцервикального перехода могут варьироваться от отсутствия симптомов до сдавления ствола мозга, ограничения циркуляции спинномозговой жидкости, приводящих к гидроцефалии, сирингомиелии и поражению черепных нервов. Патология пояснично-крестцового отдела позвоночника представлена спондилолизом и спондилолистезом, как правило, в сегменте L5–S1, в 5,3–10,9% случаев. Клиническая значимость и естественное течение спондилолиза и спондилолистеза у пациентов с НО в литературе до конца не определены, а информация о хирургических показаниях и методах доступна только в редких отчетах о случаях. Изменения осевого скелета при НО могут привести к существенной функциональной инвалидности, боли и потенциально опасным для жизни осложнениям: корешковому неврологическому дефициту, снижению мощности вентиляции легких, сердечно-респираторным осложнениям. Общая тяжесть НО до сих пор остается лучшим критерием прогноза развития вторичной патологии позвоночника. В силу генерализованности и гетерогенности НО необходимо применять индивидуальный и мультидисциплинарный подход при диагностике и планировании стратегии лечения данной группы пациентов.</p></trans-abstract><kwd-group xml:lang="en"><kwd>osteogenesis imperfecta</kwd><kwd>spinal pathology</kwd><kwd>scoliosis</kwd><kwd>anomalies of the craniovertebral junction</kwd><kwd>pathology of the cervical spine</kwd><kwd>pathology of the lumbosacral spine</kwd></kwd-group><kwd-group xml:lang="ru"><kwd>несовершенный остеогенез</kwd><kwd>патология позвоночника</kwd><kwd>сколиоз</kwd><kwd>аномалии краниовертебрального соединения</kwd><kwd>патология шейного отдела</kwd><kwd>патология пояснично-крестцового отдела позвоночника</kwd></kwd-group><funding-group/></article-meta></front><body></body><back><ref-list><ref id="B1"><label>1.</label><mixed-citation>Rauch F., Glorieux F.H. Osteogenesis imperfecta. Lancet. 2004;363(9418):1377-1385. doi: 10.1016/S0140-6736(04)16051-0.</mixed-citation></ref><ref id="B2"><label>2.</label><mixed-citation>Trejo P., Rauch F. Osteogenesis imperfecta in children and adolescents-new developments in diagnosis and treatment. Osteoporos Int. 2016;27(12):3427-3437. doi: 10.1007/s00198-016-3723-3.</mixed-citation></ref><ref id="B3"><label>3.</label><mixed-citation>Forlino A., Marini J.C. Osteogenesis imperfecta. Lancet. 2016;387(10028):1657-1671. doi: 10.1016/S0140-6736(15)00728-X.</mixed-citation></ref><ref id="B4"><label>4.</label><mixed-citation>Liu G., Chen J., Zhou Y., Zuo Y., Liu S., Chen W. et al. The genetic implication of scoliosis in osteogenesis imperfecta: a review. J Spine Surg. 2017;3(4):666-678. doi: 10.21037/jss.2017.10.01.</mixed-citation></ref><ref id="B5"><label>5.</label><mixed-citation>Palomo T., Vilac T., Lazaretti-Castroa M. Osteogenesis imperfecta: diagnosis and treatment. Curr Opin Endocrinol Diabetes Obes. 2017;24(6):381-388. doi: 10.1097/MED.0000000000000367.</mixed-citation></ref><ref id="B6"><label>6.</label><mixed-citation>Shah S.A., Wallace J.M. Osteogenesis imperfecta in the spine. In: R.W. Kruse (ed.), Osteogenesis Imperfecta. Springer Nature Switzerland AG; 2020. p. 221-230. doi: 10.1007/978-3-030-42527-2_13.</mixed-citation></ref><ref id="B7"><label>7.</label><mixed-citation>Khan S.I., Yonko EA., Carter E.M., Raggio C.L. Cardiopulmonary Status in Adults with Osteogenesis Imperfecta: Intrinsic Lung Disease May Contribute More Than Scoliosis. Clin Orthop Relat Res. 2020;478(12):2833-2843. doi: 10.1097/CORR.0000000000001400.</mixed-citation></ref><ref id="B8"><label>8.</label><mixed-citation>Marini J.C., Forlino A., Bachinger H.P., Bishop N.J., Byers P.H., Paepe A. et al. Osteogenesis imperfecta. Nat Rev Dis Primers. 2017;3:17052. doi: 10.1038/nrdp.2017.52.</mixed-citation></ref><ref id="B9"><label>9.</label><mixed-citation>Andersen P.E. Jr., Hauge M. Osteogenesis imperfecta: a genetic, radiological, and epidemiological study. Clin Genet. 1989;36(4):250-255. doi: 10.1111/j.1399-0004.1989.tb03198.x.</mixed-citation></ref><ref id="B10"><label>10.</label><mixed-citation>Van Dijk F.S., Pals G., Van Rijn R.R., Nikkels P.G., Cobben J.M. Classification of Osteogenesis Imperfecta revisited. Eur J Med Genet. 2010;53(1):1-5. doi: 10.1016/j.ejmg.2009.10.007.</mixed-citation></ref><ref id="B11"><label>11.</label><mixed-citation>Lindahl K., Åström E., Rubin C.J., Grigelioniene G., Malmgren B., Ljunggren Ö. et al. Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. Eur J Hum Genet. 2015;23(8):1042-1050. doi: 10.1038/ejhg.2015.81.</mixed-citation></ref><ref id="B12"><label>12.</label><mixed-citation>de Lima M.V., de Lima F.V., Akkari M., Resende V.R., Santili C. Roentgenographic Evaluation of the Spine in Patients With Osteogenesis Imperfecta. Medicine (Baltimore). 2015;94(47):e1841. doi: 10.1097/MD.0000000000001841.</mixed-citation></ref><ref id="B13"><label>13.</label><mixed-citation>Barber L.A., Abbott C., Nakhate V., Do A.N.D., Blissett A.R., Marini J.C. Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen. Genet Med. 2019;21(5):1233-1239. doi: 10.1038/s41436-018-0307-y.</mixed-citation></ref><ref id="B14"><label>14.</label><mixed-citation>Gehlen M., Schwarz-Eywill M., Hinz C., Pfeifer M., Siebers-Renelt U., Ratanski M. et al. [Rehabilitation of orphan diseases in adulthood: osteogenesis imperfecta]. Z Rheumatol. 2021;80(1):29-42. (In German). doi: 10.1007/s00393-020-00927-8.</mixed-citation></ref><ref id="B15"><label>15.</label><mixed-citation>Engelbert R.H., Gerver W.J., Breslau-Siderius L.J., van der Graaf Y., Pruijs H.E., van Doorne J.M. et al. Spinal complications in osteogenesis imperfecta: 47 patients 1-16 years of age. Acta Orthop Scand. 1998;69(3): 283-286. doi: 10.3109/17453679809000931.</mixed-citation></ref><ref id="B16"><label>16.</label><mixed-citation>Arponen H., Mäkitie O., Waltimo-Sirén J. Association between joint hypermobility, scoliosis, and cranial base anomalies in paediatric Osteogenesis imperfecta patients: a retrospective cross-sectional study. BMC Musculoskelet Disord. 2014;15:428. doi: 10.1186/1471-2474-15-428.</mixed-citation></ref><ref id="B17"><label>17.</label><mixed-citation>Castelein R.M., Hasler C., Helenius I., Ovadia D., Yazici M. Complex spine deformities in young patients with severe osteogenesis imperfecta: current concepts review. J Child Orthop. 2019;13(1):22-32. doi: 10.1302/1863-2548.13.180185.</mixed-citation></ref><ref id="B18"><label>18.</label><mixed-citation>Bacon S., Crowley R. Developments in rare bone diseases and mineral disorders. Ther Adv Chronic Dis. 2018;9(1):51-60. doi: 10.1177/2040622317739538.</mixed-citation></ref><ref id="B19"><label>19.</label><mixed-citation>Van Dijk F.S., Sillence D.O. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014;164A(6):1470-1481. doi: 10.1002/ajmg.a.36545.</mixed-citation></ref><ref id="B20"><label>20.</label><mixed-citation>Rauch F., Moffatt P., Cheung M., Roughley P., Lalic L., Lund A.M. et al. Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C&gt;T mutation in allpatients. J Med Genet. 2013;50(1):21-24. doi: 10.1136/jmedgenet-2012-101307.</mixed-citation></ref><ref id="B21"><label>21.</label><mixed-citation>Semler O., Garbes L., Keupp K., Swan D., Zimmermann K., Becker J. et al. A mutation in the 5’-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet. 2012;91(2):349-357. doi: 10.1016/j. ajhg.2012.06.011.</mixed-citation></ref><ref id="B22"><label>22.</label><mixed-citation>Morello R., Bertin T.K., Chen Y., Hicks J., Tonachini L., Monticone M. et al. CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006;127(2):291-304. doi: 10.1016/j.cell.2006.08.039.</mixed-citation></ref><ref id="B23"><label>23.</label><mixed-citation>Lim J., Grafe I., Alexander S., Lee B. Genetic causes and mechanisms of Osteogenesis Imperfecta. Bone. 2017;102:40-49. doi: 10.1016/j.bone.2017.02.004.</mixed-citation></ref><ref id="B24"><label>24.</label><mixed-citation>Sillence D.O., Rimoin D.L., Danks D.M. Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity. Birth Defects Orig Artic Ser. 1979;15(5B):113-129.</mixed-citation></ref><ref id="B25"><label>25.</label><mixed-citation>Widmann R.F., Bitan F.D., Laplaza F.J., Burke S.W., DiMaio M.F., Schneider R. Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta. Spine. 1999;24(16):1673-1678. doi: 10.1097/00007632-199908150-00008.</mixed-citation></ref><ref id="B26"><label>26.</label><mixed-citation>O’Donnell C., Bloch N., Michael N., Erickson M., Garg S. Management of scoliosis in children with osteogenesis imperfecta. JBJS Rev. 2017;5:e8. doi: 10.2106/JBJS.RVW.16.00063.</mixed-citation></ref><ref id="B27"><label>27.</label><mixed-citation>Benson D.R., Donaldson D.H., Millar E.A. The spine in osteogenesis imperfecta. J Bone Joint Surg Am. 1978;60(7):925-929.</mixed-citation></ref><ref id="B28"><label>28.</label><mixed-citation>Karbowski A., Schwitalle M., Eckardt A. [Scoliosis in patients with osteogenesis imperfecta: a federal nation-wide cross-sectional study]. Z Orthop Ihre Grenzgeb. 1999;137(3):219-222. (In German). doi: 10.1055/s-2008-1037397.</mixed-citation></ref><ref id="B29"><label>29.</label><mixed-citation>Anissipour A.K., Hammerberg K.W., Caudill A., Kostiuk T., Tarima S., Zhao H.S. et al. Behavior of scoliosis during growth in children with osteogenesis imperfecta. J Bone Joint Surg Am. 2014;96(3):237-43. doi: 10.2106/JBJS.L.01596.</mixed-citation></ref><ref id="B30"><label>30.</label><mixed-citation>Sato A., Ouellet J., Muneta T., Glorieux F.H., Rauch F. Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment. Bone. 2016;86:53-57. doi: 10.1016/j.bone.2016.02.018.</mixed-citation></ref><ref id="B31"><label>31.</label><mixed-citation>Pyott S.M., Tran T.T., Leistritz D.F., Pepin M.G., Mendelsohn N.J., Temme R.T. et al. WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. Am J Hum Genet. 2013;92(4):590-597. doi: 10.1016/j.ajhg.2013.02.009.</mixed-citation></ref><ref id="B32"><label>32.</label><mixed-citation>Wallace M.J., Kruse R.W., Shah S.A. The Spine in Patients With Osteogenesis Imperfecta. J Am Acad Orthop Surg. 2017;25(2):100-109. doi: 10.5435/JAAOS-D-15-00169.</mixed-citation></ref><ref id="B33"><label>33.</label><mixed-citation>Norimatsu H., Mayuzumi T., Takahashi H. The development of the spinal deformities in osteogenesis imperfecta. Clin Orthop Relat Res. 1982;(162):20-25.</mixed-citation></ref><ref id="B34"><label>34.</label><mixed-citation>Hanscom D.A., Winter R.B., Lutter L., Lonstein J.E., Bloom B.A., Bradford D.S. Osteogenesis imperfecta. Radiographic classification, natural history, and treatment of spinal deformities. J Bone Joint Surg Am. 1992;74(4):598-616.</mixed-citation></ref><ref id="B35"><label>35.</label><mixed-citation>Cristofaro R.L., Hoek K.J., Bonnett C.A., Brown J.C. Operative treatment of spine deformity in osteogenesis imperfecta. Clin Orthop Relat Res. 1979;(139):40-48.</mixed-citation></ref><ref id="B36"><label>36.</label><mixed-citation>Engelbert R.H., Uiterwaal C.S., van der Hulst A., Witjes B., Helders P.J., Pruijs H.E. Scoliosis in children with osteogenesis imperfecta: influence of severity of disease and age of reaching motor milestones. Eur Spine J. 2003;12(2):130-134. doi: 10.1007/s00586-002-0491-x.</mixed-citation></ref><ref id="B37"><label>37.</label><mixed-citation>Watanabe G., Kawaguchi S., Matsuyama T., Yamashita T. Correlation of scoliotic curvature with Z-score bone mineral density and body mass index in patients with osteogenesis imperfecta. Spine. 2007;32(17):E488-494. doi: 10.1097/BRS.0b013e31811ec2d9.</mixed-citation></ref><ref id="B38"><label>38.</label><mixed-citation>Yong-Hing K., MacEwen G.D. Scoliosis associated with osteogenesis imperfecta. J Bone Joint Surg Br. 1982;64(1):36-43. doi: 10.1302/0301-620X.64B1.7068718.</mixed-citation></ref><ref id="B39"><label>39.</label><mixed-citation>Ishikawa S., Kumar S.J., Takahashi H.E., Homma M. Vertebral body shape as a predictor of spinal deformity in osteogenesis imperfecta. J Bone Joint Surg Am. 1996;78(2):212-219. doi: 10.2106/00004623-199602000-00007.</mixed-citation></ref><ref id="B40"><label>40.</label><mixed-citation>Abelin K., Vialle R., Lenoir T., Thévenin-Lemoine C., Damsin J.P., Forin V. The sagittal balance of the spine in children and adolescents with osteogenesis imperfecta. Eur Spine J. 2008;17(12):1697-1704. doi: 10.1007/s00586-008-0793-8.</mixed-citation></ref><ref id="B41"><label>41.</label><mixed-citation>Shapiro J.R., Stover M.L., Burn V.E., McKinstry M.B., Burshell A.L., Chipman S.D. et al. An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen. J Clin Invest. 1992;89(2): 567-573. doi: 10.1172/JCI115622.</mixed-citation></ref><ref id="B42"><label>42.</label><mixed-citation>Cho S.Y., Asharani P.V., Kim O.H., Iida A., Miyake N., Matsumoto N. et al. Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. Hum Mutat. 2015;36(2):191-195. doi: 10.1002/humu.22731.</mixed-citation></ref><ref id="B43"><label>43.</label><mixed-citation>McPherson E., Clemens M. Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case. Am J Med Genet. 1997;70(1):28-31.</mixed-citation></ref><ref id="B44"><label>44.</label><mixed-citation>Land C., Rauch F., Munns C.F., Sahebjam S., Glorieux F.H. Vertebral morphometry in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate treatment. Bone. 2006;39(4):901-906. doi: 10.1016/j.bone.2006.04.004</mixed-citation></ref><ref id="B45"><label>45.</label><mixed-citation>Daivajna S., Jones A., Hossein M.S. Surgical management of severe cervical kyphosis with myelopathy in osteogenesis imperfecta: a case report. Spine. 2005; 30(7):E191-194. doi: 10.1097/01.brs.0000157471.44284.a2.</mixed-citation></ref><ref id="B46"><label>46.</label><mixed-citation>Primorac D., Rowe D.W., Mottes M., Barisić I., Anticević D., Mirandola S. et al. Osteogenesis imperfecta at the beginning of bone and joint decade. Croat Med J. 2001;42(4):393-415.</mixed-citation></ref><ref id="B47"><label>47.</label><mixed-citation>Ben Amor I.M., Roughley P., Glorieux F.H., Rauch F. Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1. J Bone Miner Res. 2013;28(9):2001-2007. doi: 10.1002/jbmr.1942.</mixed-citation></ref><ref id="B48"><label>48.</label><mixed-citation>Widhe T.L. A probable new type of osteopenic bone disease. Pediatr Radiol. 2002;32(6):447-451. doi: 10.1007/s00247-001-0640-0.</mixed-citation></ref><ref id="B49"><label>49.</label><mixed-citation>Ivo R., Fuerderer S., Eysel P. Spondylolisthesis caused by extreme pedicle elongation in osteogenesis imperfecta. Eur Spine J. 2007;16(10):1636-1640. doi: 10.1007/s00586-006-0293-7.</mixed-citation></ref><ref id="B50"><label>50.</label><mixed-citation>Arponen H., Mäkitie O., Waltimo-Sirén J. Association between joint hypermobility, scoliosis, and cranial base anomalies in pediatric osteogenesis imperfecta patients: a retrospective cross-sectional study. BMC Musculoskeletal Disorders. 2014;15:428. doi: 10.1186/1471-2474-15-428.</mixed-citation></ref><ref id="B51"><label>51.</label><mixed-citation>Kashii M., Kanayama S., Kitaoka T., Makino T., Kaito T., Iwasaki M. et al. Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy. J Bone Miner Metab. 2019;37(3):545-553. doi: 10.1007/s00774-018-0952-x.</mixed-citation></ref><ref id="B52"><label>52.</label><mixed-citation>Benson D.R., Newman D.C. The spine and surgical treatment in osteogenesis imperfecta. Clin Orthop Relat Res. 1981;(159):147-153.</mixed-citation></ref><ref id="B53"><label>53.</label><mixed-citation>Arponen H., Mäkitie O., Haukka J., Ranta H., Ekholm M., Mäyränpää M.K. et al. Prevalence and natural course of craniocervical junction anomalies during growth in patients with osteogenesis imperfecta. J Bone Miner Res. 2012;27(5):1142-1149. doi:10.1002/jbmr.1555.</mixed-citation></ref><ref id="B54"><label>54.</label><mixed-citation>Oppenheim W.L. The spine in osteogenesis imperfecta: a review of treatment. Connect Tissue Res. 1995;31(4): S59-63. doi: 10.3109/03008209509116836.</mixed-citation></ref><ref id="B55"><label>55.</label><mixed-citation>Sillence D.O. Craniocervical abnormalities in osteogenesis imperfecta: genetic and molecular correlation. Pediatr Radiol. 1994;24(6):427-430. doi: 10.1007/BF02011910.</mixed-citation></ref><ref id="B56"><label>56.</label><mixed-citation>McRAE D.L. Bony abnormalities in the region of the foramen magnum: correlation of the anatomic and neurologic findings. Acta radiol. 1953;40(2-3):335-354. doi: 10.3109/00016925309176595.</mixed-citation></ref><ref id="B57"><label>57.</label><mixed-citation>Kovero O., Pynnönen S., Kuurila-Svahn K., Kaitila I., Waltimo-Sirén J. Skull base abnormalities in osteogenesis imperfecta: a cephalometric evaluation of 54 patients and 108 control volunteers. J Neurosurg. 2006;105(3):361-370. doi: 10.3171/jns.2006.105.3.361.</mixed-citation></ref><ref id="B58"><label>58.</label><mixed-citation>Lubicky J.P. The spine in osteogenesis imperfecta. In: Weinstein S.L., ed. The pediatric spine: principles and practice. 1st ed. New York : Raven Press; 1994. p. 943-958.</mixed-citation></ref><ref id="B59"><label>59.</label><mixed-citation>Arponen H., Vuorimies I., Haukka J., Valta H., Waltimo-Sirén J., Mäkitie O. Cranial base pathology in pediatric osteogenesis imperfecta patients treated with bisphosphonates. J Neurosurg Pediatr. 2015;15(3): 313-320. doi: 10.3171/2014.11.PEDS14113.</mixed-citation></ref><ref id="B60"><label>60.</label><mixed-citation>Cheung M.S., Arponen H., Roughley P., Azouz M.E., Glorieux F.H., Waltimo-Sirén J. et al. Cranial base abnormalities in osteogenesis imperfecta: phenotypic and genotypic determinants. J Bone Miner Res. 2011;26(2):405-413. doi: 10.1002/jbmr.220.</mixed-citation></ref><ref id="B61"><label>61.</label><mixed-citation>Pozo J.L., Crockard H.A., Ransford A.O. Basilar impression in osteogenesis imperfecta. A report of three cases in one family. J Bone Joint Surg Br. 1984;66(2): 233-238. doi: 10.1302/0301-620X.66B2.6707059.</mixed-citation></ref><ref id="B62"><label>62.</label><mixed-citation>Khandanpour N., Connolly D.J., Raghavan A., Griffiths P.D., Hoggard N. Craniospinal abnormalities and neurologic complications of osteogenesis imperfecta: imaging overview. Radiographics. 2012;32(7):2101-2112. doi: 10.1148/rg.327125716.</mixed-citation></ref><ref id="B63"><label>63.</label><mixed-citation>Locke G.R., Gardner J.I., Van Epps E.F. Atlas-dens interval (ADI) in children: a survey based on 200 normal cervical spines. Am J Roentgenol Radium Ther Nucl Med. 1966;97(1):135-140. doi: 10.2214/ajr.97.1.135.</mixed-citation></ref><ref id="B64"><label>64.</label><mixed-citation>Spierings E.L., Braakman R. The management of os odontoideum. Analysis of 37 cases. J Bone Joint Surg Br. 1982;64(4):422-428. doi: 10.1302/0301-620X.64B4.7096415.</mixed-citation></ref><ref id="B65"><label>65.</label><mixed-citation>Helenius I., Crawford H., Sponseller P.D., Odent T., Bernstein R.M., Stans A.A. et al. Rigid fixation improves outcomes of spinal fusion for C1-C2 instability in children with skeletal dysplasias. J Bone Joint Surg Am. 2015;97(3):232-240. doi: 10.2106/JBJS.N.00503.</mixed-citation></ref><ref id="B66"><label>66.</label><mixed-citation>Colo D., Schlösser T.P., Oostenbroek H.J., Castelein R.M. Complete Remodeling After Conservative Treatment of a Severely Angulated Odontoid Fracture in a Patient With Osteogenesis Imperfecta: A Case Report. Spine (Phila Pa 1976). 2015;40(18):E1031-1034. doi: 10.1097/BRS.0000000000000999.</mixed-citation></ref><ref id="B67"><label>67.</label><mixed-citation>Rush G.A., Burke S.W. Hangman’s fracture in a patient with osteogenesis imperfecta. Case report. J Bone Joint Surg Am. 1984;66(5):778-779.</mixed-citation></ref><ref id="B68"><label>68.</label><mixed-citation>Mesfin A., Nesterenko S.O., Al-Hourani K.G., Jain A., Sponseller P.D. Management of hangman’s fractures and a subaxial compression fracture in two children with osteogenesis imperfecta. J Surg Orthop Adv. 2013;22(4):326-329. doi: 10.3113/jsoa.2013.0326.</mixed-citation></ref><ref id="B69"><label>69.</label><mixed-citation>Verra W.C., Pruijs H.J., Beek E.J., Castelein R.M. Prevalence of vertebral pars defects (spondylolysis) in a population with osteogenesis imperfecta. Spine (Phila Pa 1976). 2009;34(13):1399-1401. doi: 10.1097/BRS.0b013e3181a39646.</mixed-citation></ref><ref id="B70"><label>70.</label><mixed-citation>Hatz D., Esposito P.W., Schroeder B., Burke B., Lutz R., Hasley B.P. The incidence of spondylolysis and spondylolisthesis in children with osteogenesis imperfecta. J Pediatr Orthop. 2011;31(6):655-660. doi: 10.1097/BPO.0b013e31822889c9.</mixed-citation></ref><ref id="B71"><label>71.</label><mixed-citation>Рябых С.О., Савин Д.М., Филатов Е.Ю., Котельников А.О., Сайфутдинов М.С. Результаты хирургического лечения спондилолистеза тяжелой степени (анализ моноцентровой когорты и обзор литературы). Травматология и ортопедия России. 2019;25(3):100-111. doi: 10.21823/2311-2905-2019-25-3-100-111. Ryabykh S.O., Savin D.M., Filatov E.Yu., Kotelnikov A.O., Saifutdinov M.S. [Outcomes of Surgical Treatment of High-Grade Spondylolisthesis (Monocenter Cohort and Literature Review)]. Travmatologiya i ortopediya Rossii [Traumatology and Orthopedics of Russia]. 2019;25(3):100-111. (In Russian). doi: 10.21823/2311-2905-2019-25-3-100-111.</mixed-citation></ref><ref id="B72"><label>72.</label><mixed-citation>Мингазов Э.Р., Чибиров Г.М., Попков Д.А. Ортопедические осложнения и ятрогении при коррекции деформаций нижних конечностей у пациентов, страдающих тяжелыми формами несовершенного остеогенеза. Гений ортопедии. 2018;24(2):168-176. doi: 10.18019/1028-4427-2018-24-2-168-176. Mingazov E.R., Chibirov G.M., Popkov D.A. [Orthopaedic complications and iatrogenies during deformity correction of lower limbs in patients with severe osteogenesis imperfect]. Genij Ortopedii. 2018;24(2):168-176. (In Russian). doi: 10.18019/1028-4427-2018-24-2-168-176.</mixed-citation></ref><ref id="B73"><label>73.</label><mixed-citation>Скрябин Е.Г., Комарова И.В., Буксеев А.Н., Кукарская И.И., Аксельров М.А., Храмова Е.Б. и др. Внутриутробные переломы костей скелета у плодов с несовершенным остеогенезом: обзор литературы и собственное клиническое наблюдение. Гений ортопедии. 2018;24(4):521-529. doi: 10.18019/1028-4427-2018-24-4-521-529. Skryabin E.G., Komarova I.V., Bukseev A.N., Kukarskaya I.I., Akselrov M.A., Khramova E.B. et al. [Intrauterine bone fractures in fetuses with osteogenesis imperfecta: a literature review and a case report]. Genij Ortopedii. 2018;24(4):521-529. (In Russian). doi: 10.18019/1028-4427-2018-24-4-521-529.</mixed-citation></ref></ref-list></back></article>
