30 Spinal Deformity in Syndromic Spinal Diseases

doi:10.1055/b-0044-203453

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DeWald, Christopher et al.: 2024 Spinal Deformities DOI: 10.1055/b-0044-203453

Section III-A Pediatric and Adolescent Spinal Deformities

30 Spinal Deformity in Syndromic Spinal Diseases

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Editors: DeWald, Christopher; DeWald, Ronald L.

Authors: Ackshota, Nissim; Ahn, Nicholas U.; Alazzeh, Mohanad; Albert, Todd J.; Algattas, Hanna; An, Howard S.; Anari, Jason B.; Arlet, Vincent; Asher†, Marc A.; Belanger, Evan H.; Blakemore, Laurel C.; Blanke, Kathleen M.; Bondar, Kevin; Buchowski, Jacob M.; Bunch, Joshua T.; Burton, Douglas C.; Cahill, Patrick J.; Campbell, Robert; Carl, Allen L.; Caruso, Steven; Cerpa, Meghan; Charosky, Sebastien; Cognetti, Daniel J.; Crawford, Alvin H.; Crawford III, Charles H.; Cui, Shari; Daffner, Scott D.; Dede, Ozgur; Dekutoski, Mark B.; DeWald, Christopher J.; Dormans, John P.; Drayer, Nicholas J.; Drummond†, Denis S.; Emery, Sanford E.; Farcy, Jean-Pierre C.; Farrell, James P.; Fontes, Ricardo B. V.; Forsthoefel, Craig; Frost, Chelsea; Gaines, Robert W.; Gandhi, Sapan D.; Gehrchen, Martin; Glassman, Steven D.; Guiroy, Alfredo; Gupta, Munish C.; Ha, Alex S.; Hadeed, Michael M.; Haher, Thomas R.; Hamill, Christopher L.; Hamilton, D. Kojo; Hariharan, Arun R.; Harrop, James S.; Hashmi, Sohaib Z.; Hassanzadeh, Hamid; Heydemann, John A.; Horowitz, Jason A.; Howard, Roland; Hu, Ming-Hsiao; Hu, Serena S.; Hwang, Steven W.; Iyer, Sravisht; Jain, Amit; Jain, Viral V.; Janjua, M. Burhan; Jorgensen, Anton; Kang, Daniel G.; Kawakami, Noriaki; Kebaish, Khaled M.; Kelly, Michael P.; Kim, Han Jo; Labaran, Lawal A.; Lafage, Virginie; Laratta, Joseph L.; Lehman, Ronald A.; Lenke, Lawrence G.; Loder, Randall T.; Lonstein, John E.; Louie, Philip K.; Lubicky, John P.; Malik, Mohammad Saad; Marco, Rex A.W.; Mardjetko, Steven M.; Marrache, Majd; Maslak, Joseph P.; McCarthy, Michael H.; Melikian, Rojeh; Miller, Catherine; Min, Kan; Moquin, Ross R.; Morrison, Pamela R.; Mummaneni, Praveen V.; Nelson, Scott; Newton, Peter O.; Nolte, Michael T.; O’Brien†, Michael F.; Oetgen, Matthew E.; Ogilvie, James W.; Pannu, Tejbir S.; Petfield, Joseph L.; Riccio, Alexander R.; Roussouly, Pierre; Rymarczuk, George; Saifi, Comron; Salari, Pooria A.; Samdani, Amer F.; Sanders, James O.; Sarwark, John F.; Schwab, Frank J.; Sebaaly, Amer; Sengupta, Dilip K.; Shafi, Karim; Shah, Suken A.; Sheha, Evan D.; Shen, Francis H.; Shimer, Adam L.; Shtewe, Anan H.; Singla, Priyanka; Sponseller, Paul; Staub, Blake N.; Stricsek, Geoffrey P.; Sturm, Peter F.; Suk, Se-Il; Theologis, Alekos A.; Thompson, George H.; Thottempudi, Santan; Uribe, Juan S.; Vivas, Andrew C.; Wallace, Christopher S.; Witte, Zackery W.; Wood, Kirkham B.; York, Philip J.; Yu, Henry H.; Zebala, Lukas P.; Zhang, Bo; Zhao, Yiyu

Title: Spinal Deformities

Subtitle: The Comprehensive Text

Print ISBN: 9781626233720; Online ISBN: 9781684203604; Book DOI: 10.1055/b000000246

2. Edition © 2024. Thieme. All rights reserved.
Thieme Medical Publishers, Inc., New York

Subjects: Neurosurgery;Orthopaedics and Trauma Surgery

Thieme Clinical Collections (English Language)

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Supplementary Material

Paul Sponseller

Abstract

Spine deformity is a commonly reported manifestation in numerous genetic syndromes. In fact, many syndromes can be diagnosed for the first time in the orthopedic clinic at the initial evaluation of a patient with spine deformity. Therefore, it is important to evaluate the patient presenting with scoliosis thoroughly to detect any clinical signs that could guide the diagnosis of Marfan’s syndrome, Loeys–Dietz syndrome, neurofibromatosis I, and others. On the other hand, spine evaluation is an essential part of the clinical examination of patients, with a well-established and diagnosed syndrome, who present to the orthopedic clinic. It is common for these patients, such as patients with achondroplasia, to have spine deformities that, in many cases, require surgical correction. This chapter summarizes spine manifestations and findings that the orthopedic surgeon needs to be aware of when evaluating different syndromes. Variations in clinical signs, findings, and prognosis are reflected in the different sections of this chapter. These findings determine the management plan and the necessity for radiographic monitoring. Further research with the focus on individual syndromes is helpful in establishing management guidelines and optimizing the orthopedic care of children with genetic syndromes.

Key words

spine deformity - scoliosis - kyphosis - genetic syndromes - Marfan’s syndrome - Loeys–Dietz - Neurofibromatosis - skeletal dysplasia - achondroplasia

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