| Review of Cervical Spine Anomalies in Genetic Syndromes. | |
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MedLine Citation:
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PMID: 22045003 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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ABSTRACT:: Study Design: Focused review of the literature.Objectives: Assist spine specialists in diagnosis and treatment of cervical spine anomalies found in selected genetic syndromes.Summary of Background Data: Cervical spine instability and/or stenosis are potentially debilitating problems in many genetic syndromes. These problems can be overlooked among the other systemic issues more familiar to clinicians and radiologists evaluating these syndromes. It is imperative that spine specialists understand the relevant issues associated with these particular syndromes.Methods: The literature was reviewed for cervical spine issues in 10 specific syndromes.The information is presented in the following order: First, the identification and treatment of mid-cervical kyphosis in Larsen syndrome and Diastrophic Dysplasia. Next, the upper cervical abnormalities seen in Down syndrome, 22q11.2 Deletion syndrome, Pseudoachondroplasia, Morquio syndrome, Goldenhar syndrome, Spondyloepiphyseal Dysplasia Congenita, and Kniest Dysplasia. Finally, the chin-on-chest deformity of fibrodysplasia ossificans progressiva.Results: Mid-cervical kyphosis in patients with Larsen syndrome and Diastrophic Dysplasia needs to be evaluated and imaged often to track deformity progression.. Upper cervical spine instability in Down syndrome is most commonly due to ligamentous laxity at C1-2 and occiput-C1 levels. Nearly 100% of patients with 22q11.2 Deletion syndrome have cervical spine abnormalities, but few are symptomatic. Patients with pseudoachondroplasia and Morquio syndrome have C1-2 instability related to odontoid dysplasia (hypoplasia and os odontoideum). Morquio patients also have soft-tissue glycosaminoglycan deposits, which cause stenosis and lead to myelopathy. Severely affected patients with Spondyloepiphyseal Dysplasia Congenita are at high risk of myelopathy due to atlantoaxial instability in addition to underlying stenosis. Kniest syndrome is associated with atlantoaxial instability. Cervical spine anomalies in Goldenhar syndrome are varied, and can be severe.Fibrodysplasia Ossificans Progressiva (FOP) features severe, deforming heterotopic ossification that can become life-threatening.Conclusions: It is important to be vigilant in the diagnosis and treatment of cervical spine anomalies in patients with genetic syndromes. |
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Authors:
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Scott D McKay; Ali Al-Omari; Lauren A Tomlinson; John P Dormans |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-10-29 |
Journal Detail:
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Title: Spine Volume: - ISSN: 1528-1159 ISO Abbreviation: - Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-11-2 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7610646 Medline TA: Spine (Phila Pa 1976) Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Richard D. Wood Center, 21Department of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA nd Floor, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104-4399. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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