Vertebral column: Difference between revisions
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It can be caused by congenital conditions, inflammatory conditions like [[rheumatoid arthritis]], as a result of physical trauma, or infection.<ref>{{Cite journal|date=2019-11-10|title=Atlantoaxial Instability: Background, Pathophysiology, Etiology|url=https://emedicine.medscape.com/article/1265682-overview}}</ref> It has been associated with Down syndrome, Morquio syndrome,<ref>{{Cite journal|last=Li|first=Ming-Feng|last2=Chiu|first2=Pao-Chin|last3=Weng|first3=Mei-Jui|last4=Lai|first4=Ping-Hong|date=2010-12-13|title=Atlantoaxial Instability and Cervical Cord Compression in Morquio Syndrome|url=https://jamanetwork.com/journals/jamaneurology/fullarticle/801729|journal=Archives of Neurology|language=en|volume=67|issue=12|pages=1530–1530|doi=10.1001/archneurol.2010.308|issn=0003-9942}}</ref> [[Marfan syndrome]],<ref>{{Cite journal|last=Herzka|first=Andrea|last2=Sponseller|first2=Paul D.|last3=Pyeritz|first3=Reed E.|date=2000-02-15|title=Atlantoaxial Rotatory Subluxation in Patients With Marfan Syndrome: A Report of Three Cases|url=https://journals.lww.com/spinejournal/Abstract/2000/02150/Atlantoaxial_Rotatory_Subluxation_in_Patients_With.22.aspx|journal=Spine|language=en-US|volume=25|issue=4|pages=524|issn=0362-2436}}</ref><ref name=":3">{{Cite journal|last=MacKenzie|first=James MacKintosh|last2=Rankin|first2=Rosslyn|date=Dec 2003|title=Sudden Death Due to Atlantoaxial Subluxation in Marfan Syndrome|url=https://journals.lww.com/amjforensicmedicine/Abstract/2003/12000/Sudden_Death_Due_to_Atlantoaxial_Subluxation_in.12.aspx|journal=The American Journal of Forensic Medicine and Pathology|language=en-US|volume=24|issue=4|pages=369|doi=10.1097/01.paf.0000097853.26115.bb|issn=0195-7910|pmc=|pmid=|quote=|last3=|first3=|last4=|first4=|last5=|first5=|last6=|first6=|last7=|first7=|last8=|first8=|author-link=|author-link2=|access-date=|author-link3=|author-link4=|author-link5=|author-link6=|via=}}</ref> and [[Ehlers-Danlos syndrome]].<ref>{{Cite web|url=https://europepmc.org/article/med/8596160|title=Europe PMC|website=europepmc.org|access-date=2019-12-10}}</ref><ref>{{Cite journal|last=Henderson|first=Fraser C.|last2=Austin|first2=Claudiu|last3=Benzel|first3=Edward|last4=Bolognese|first4=Paolo|last5=Ellenbogen|first5=Richard|last6=Francomano|first6=Clair A.|last7=Ireton|first7=Candace|last8=Klinge|first8=Petra|last9=Koby|first9=Myles|date=2017|title=Neurological and spinal manifestations of the Ehlers–Danlos syndromes|url=https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.31549|journal=American Journal of Medical Genetics Part C: Seminars in Medical Genetics|language=en|volume=175|issue=1|pages=195–211|doi=10.1002/ajmg.c.31549|issn=1552-4876}}</ref><ref>{{Cite journal|last=Castori|first=Marco|last2=Morlino|first2=Silvia|last3=Ghibellini|first3=Giulia|last4=Celletti|first4=Claudia|last5=Camerota|first5=Filippo|last6=Grammatico|first6=Paola|date=2015|title=Connective tissue, Ehlers–Danlos syndrome(s), and head and cervical pain|url=https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.31426|journal=American Journal of Medical Genetics Part C: Seminars in Medical Genetics|language=en|volume=169|issue=1|pages=84–96|doi=10.1002/ajmg.c.31426|issn=1552-4876}}</ref><ref>{{Cite journal|last=Lane|first=D.|date=2006-08-01|title=Anaesthetic Implications of Vascular Type Ehlers-Danlos Syndrome|url=https://doi.org/10.1177/0310057X0603400412|journal=Anaesthesia and Intensive Care|language=en|volume=34|issue=4|pages=501–505|doi=10.1177/0310057X0603400412|issn=0310-057X}}</ref><ref>{{Cite journal|last=Dordoni|first=Chiara|last2=Ciaccio|first2=Claudia|last3=Venturini|first3=Marina|last4=Calzavara‐Pinton|first4=Piergiacomo|last5=Ritelli|first5=Marco|last6=Colombi|first6=Marina|date=2016|title=Further delineation of FKBP14-related Ehlers–Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review|url=https://www.onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.37728|journal=American Journal of Medical Genetics Part A|language=en|volume=170|issue=8|pages=2031–2038|doi=10.1002/ajmg.a.37728|issn=1552-4833}}</ref><ref>{{Cite journal|last=Giunta|first=Cecilia|last2=Baumann|first2=Matthias|last3=Fauth|first3=Christine|last4=Lindert|first4=Uschi|last5=Abdalla|first5=Ebtesam M.|last6=Brady|first6=Angela F.|last7=Collins|first7=James|last8=Dastgir|first8=Jahannaz|last9=Donkervoort|first9=Sandra|date=Jan 2018|title=A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14 : expansion of the clinical and mutational spectrum and description of the natural history|url=https://www.nature.com/articles/gim201770|journal=Genetics in Medicine|language=en|volume=20|issue=1|pages=42–54|doi=10.1038/gim.2017.70|issn=1530-0366|pmc=|pmid=|quote=|author-link=|author-link2=|access-date=|author-link3=|author-link4=|author-link5=|author-link6=|via=}}</ref><ref>{{Cite web|url=https://europepmc.org/article/med/2387821|title=Europe PMC|website=europepmc.org|access-date=2019-12-10}}</ref><ref>{{Cite journal|last=Galan|first=Enrique|last2=Kousseff|first2=Boris G.|date=1995-04-01|title=Peripheral neuropathy in Ehlers-Danlos syndrome|url=http://www.sciencedirect.com/science/article/pii/088789949500003X|journal=Pediatric Neurology|volume=12|issue=3|pages=242–245|doi=10.1016/0887-8994(95)00003-X|issn=0887-8994}}</ref><ref>{{Cite journal|last=Wills|first=Brian P. D.|last2=Dormans|first2=John P.|date=Apr 2006|title=Nontraumatic Upper Cervical Spine Instability in Children|url=https://journals.lww.com/jaaos/Citation/2006/04000/Nontraumatic_Upper_Cervical_Spine_Instability_in.5.aspx|journal=JAAOS - Journal of the American Academy of Orthopaedic Surgeons|language=en-US|volume=14|issue=4|pages=233|issn=1067-151X|doi=|pmc=|pmid=|quote=|last3=|first3=|last4=|first4=|last5=|first5=|last6=|first6=|last7=|first7=|last8=|first8=|author-link=|author-link2=|access-date=|author-link3=|author-link4=|author-link5=|author-link6=|via=}}</ref> | It can be caused by congenital conditions, inflammatory conditions like [[rheumatoid arthritis]], as a result of physical trauma, or infection.<ref>{{Cite journal|date=2019-11-10|title=Atlantoaxial Instability: Background, Pathophysiology, Etiology|url=https://emedicine.medscape.com/article/1265682-overview}}</ref> It has been associated with Down syndrome, Morquio syndrome,<ref>{{Cite journal|last=Li|first=Ming-Feng|last2=Chiu|first2=Pao-Chin|last3=Weng|first3=Mei-Jui|last4=Lai|first4=Ping-Hong|date=2010-12-13|title=Atlantoaxial Instability and Cervical Cord Compression in Morquio Syndrome|url=https://jamanetwork.com/journals/jamaneurology/fullarticle/801729|journal=Archives of Neurology|language=en|volume=67|issue=12|pages=1530–1530|doi=10.1001/archneurol.2010.308|issn=0003-9942}}</ref> [[Marfan syndrome]],<ref>{{Cite journal|last=Herzka|first=Andrea|last2=Sponseller|first2=Paul D.|last3=Pyeritz|first3=Reed E.|date=2000-02-15|title=Atlantoaxial Rotatory Subluxation in Patients With Marfan Syndrome: A Report of Three Cases|url=https://journals.lww.com/spinejournal/Abstract/2000/02150/Atlantoaxial_Rotatory_Subluxation_in_Patients_With.22.aspx|journal=Spine|language=en-US|volume=25|issue=4|pages=524|issn=0362-2436}}</ref><ref name=":3">{{Cite journal|last=MacKenzie|first=James MacKintosh|last2=Rankin|first2=Rosslyn|date=Dec 2003|title=Sudden Death Due to Atlantoaxial Subluxation in Marfan Syndrome|url=https://journals.lww.com/amjforensicmedicine/Abstract/2003/12000/Sudden_Death_Due_to_Atlantoaxial_Subluxation_in.12.aspx|journal=The American Journal of Forensic Medicine and Pathology|language=en-US|volume=24|issue=4|pages=369|doi=10.1097/01.paf.0000097853.26115.bb|issn=0195-7910|pmc=|pmid=|quote=|last3=|first3=|last4=|first4=|last5=|first5=|last6=|first6=|last7=|first7=|last8=|first8=|author-link=|author-link2=|access-date=|author-link3=|author-link4=|author-link5=|author-link6=|via=}}</ref> and [[Ehlers-Danlos syndrome]].<ref>{{Cite web|url=https://europepmc.org/article/med/8596160|title=Europe PMC|website=europepmc.org|access-date=2019-12-10}}</ref><ref>{{Cite journal|last=Henderson|first=Fraser C.|last2=Austin|first2=Claudiu|last3=Benzel|first3=Edward|last4=Bolognese|first4=Paolo|last5=Ellenbogen|first5=Richard|last6=Francomano|first6=Clair A.|last7=Ireton|first7=Candace|last8=Klinge|first8=Petra|last9=Koby|first9=Myles|date=2017|title=Neurological and spinal manifestations of the Ehlers–Danlos syndromes|url=https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.31549|journal=American Journal of Medical Genetics Part C: Seminars in Medical Genetics|language=en|volume=175|issue=1|pages=195–211|doi=10.1002/ajmg.c.31549|issn=1552-4876}}</ref><ref>{{Cite journal|last=Castori|first=Marco|last2=Morlino|first2=Silvia|last3=Ghibellini|first3=Giulia|last4=Celletti|first4=Claudia|last5=Camerota|first5=Filippo|last6=Grammatico|first6=Paola|date=2015|title=Connective tissue, Ehlers–Danlos syndrome(s), and head and cervical pain|url=https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.31426|journal=American Journal of Medical Genetics Part C: Seminars in Medical Genetics|language=en|volume=169|issue=1|pages=84–96|doi=10.1002/ajmg.c.31426|issn=1552-4876}}</ref><ref>{{Cite journal|last=Lane|first=D.|date=2006-08-01|title=Anaesthetic Implications of Vascular Type Ehlers-Danlos Syndrome|url=https://doi.org/10.1177/0310057X0603400412|journal=Anaesthesia and Intensive Care|language=en|volume=34|issue=4|pages=501–505|doi=10.1177/0310057X0603400412|issn=0310-057X}}</ref><ref>{{Cite journal|last=Dordoni|first=Chiara|last2=Ciaccio|first2=Claudia|last3=Venturini|first3=Marina|last4=Calzavara‐Pinton|first4=Piergiacomo|last5=Ritelli|first5=Marco|last6=Colombi|first6=Marina|date=2016|title=Further delineation of FKBP14-related Ehlers–Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review|url=https://www.onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.37728|journal=American Journal of Medical Genetics Part A|language=en|volume=170|issue=8|pages=2031–2038|doi=10.1002/ajmg.a.37728|issn=1552-4833}}</ref><ref>{{Cite journal|last=Giunta|first=Cecilia|last2=Baumann|first2=Matthias|last3=Fauth|first3=Christine|last4=Lindert|first4=Uschi|last5=Abdalla|first5=Ebtesam M.|last6=Brady|first6=Angela F.|last7=Collins|first7=James|last8=Dastgir|first8=Jahannaz|last9=Donkervoort|first9=Sandra|date=Jan 2018|title=A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14 : expansion of the clinical and mutational spectrum and description of the natural history|url=https://www.nature.com/articles/gim201770|journal=Genetics in Medicine|language=en|volume=20|issue=1|pages=42–54|doi=10.1038/gim.2017.70|issn=1530-0366|pmc=|pmid=|quote=|author-link=|author-link2=|access-date=|author-link3=|author-link4=|author-link5=|author-link6=|via=}}</ref><ref>{{Cite web|url=https://europepmc.org/article/med/2387821|title=Europe PMC|website=europepmc.org|access-date=2019-12-10}}</ref><ref>{{Cite journal|last=Galan|first=Enrique|last2=Kousseff|first2=Boris G.|date=1995-04-01|title=Peripheral neuropathy in Ehlers-Danlos syndrome|url=http://www.sciencedirect.com/science/article/pii/088789949500003X|journal=Pediatric Neurology|volume=12|issue=3|pages=242–245|doi=10.1016/0887-8994(95)00003-X|issn=0887-8994}}</ref><ref>{{Cite journal|last=Wills|first=Brian P. D.|last2=Dormans|first2=John P.|date=Apr 2006|title=Nontraumatic Upper Cervical Spine Instability in Children|url=https://journals.lww.com/jaaos/Citation/2006/04000/Nontraumatic_Upper_Cervical_Spine_Instability_in.5.aspx|journal=JAAOS - Journal of the American Academy of Orthopaedic Surgeons|language=en-US|volume=14|issue=4|pages=233|issn=1067-151X|doi=|pmc=|pmid=|quote=|last3=|first3=|last4=|first4=|last5=|first5=|last6=|first6=|last7=|first7=|last8=|first8=|author-link=|author-link2=|access-date=|author-link3=|author-link4=|author-link5=|author-link6=|via=}}</ref> | ||
=== Cervical stenosis === | === Cervical stenosis === | ||
{{Main|page_name=Cervical spinal stenosis}} | {{Main|page_name=Cervical spinal stenosis}}''' Cervical spinal stenosis''' is a narrowing of the spinal canal in the neck.<ref>{{Cite web|url=https://www.mayoclinic.org/diseases-conditions/spinal-stenosis/symptoms-causes/syc-20352961|title=Spinal stenosis - Symptoms and causes|website=Mayo Clinic|language=en|access-date=2019-01-29}}</ref> Its symptoms can included pain, numbness, tingling, weakness and other symptoms seen in [[Cervical Medullary Syndrome|cervical medullary syndrome]]. A 2018 case study published by [[Peter Rowe]] found marked post-operative improvement of symptoms in three patients with severe [[myalgic encephalomyelitis]], [[orthostatic intolerance]] and cervical spinal stenosis. | ||
<ref>{{Cite journal|last=Rowe|first=Peter C.|last2=Marden|first2=Colleen L.|last3=Heinlein|first3=Scott|last4=Edwards|first4=Charles C.|date=2018-02-02|title=Improvement of severe myalgic encephalomyelitis/chronic fatigue syndrome symptoms following surgical treatment of cervical spinal stenosis|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796598/|journal=Journal of Translational Medicine|volume=16|doi=10.1186/s12967-018-1397-7|issn=1479-5876|pmc=5796598|pmid=29391028}}</ref> | |||
=== Tethered cord syndrome === | === Tethered cord syndrome === | ||
Revision as of 07:52, December 16, 2020
The vertebral column, also known as the backbone or spine, is part of the axial skeleton. The vertebral column is the defining characteristic of a vertebrate in which the notochord (a flexible rod of uniform composition) found in all chordates has been replaced by a segmented series of bone: vertebrae separated by intervertebral discs. The vertebral column houses the spinal canal, a cavity that encloses and protects the spinal cord.
Spinal pathologies[edit | edit source]
Chiari I malformation[edit | edit source]
A Chiari malformation (CM) is a structural defect of the base of the skull and the cerebellum, characterized by a downward displacement of one or both cerebellar tonsils through the foramen magnum (the opening at the base of the skull). This can sometimes lead to non-communicating hydrocephalus as a result of obstruction of cerebrospinal fluid(CSF) outflow.
While many clinical criteria consider Chiari malformation to be a differential diagnosis, a Swedish study of 234 ME/CFS patients meeting the Canadian Consensus Criteria found that a substantial proportion of patients had signs on their brain MRIs suggestive of intracranial hypertension: 55% had increased diameter of the optic nerve sheath. In addition 80% had cerebellar tonsillar descent that could potentially cause disruptions to spinal fluid flow, and thus increased intracranial pressure. 13.2% had tonsillar herniations severe enough to be considered a Chiari Malformation.[1]
Craniocervical instability[edit | edit source]
Craniocervical instability (CCI) is a pathological condition of increased mobility at the craniocervical junction, the area where the skull meets the spine. In CCI the ligamentous connections of the craniocervical junction can be stretched, weakened or ruptured.[2][3]
CCI usually develops as a result of physical trauma such as a car accident, an inflammatory disease such as rheumatoid arthritis or a congenital disorder such as Down's syndrome.[4] More recently, physicians have reported an increased prevalence of CCI in patients with hereditary disorders of connective tissue such as Ehlers Danlos Syndromes (EDS).[5]There have also been anecdotal reports of patients with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) who were later diagnosed with CCI,[6][7][8] although no scientific publication on this subject exists. It frequently co-occurs with atlantoaxial instability (AAI).[citation needed]
Atlantoaxial instability[edit | edit source]
Atlantoaxial instability (AAI) is characterized by excessive movement at the junction between the atlas (C1) and axis (C2) as a result of either a bone or ligament abnormality.
It can be caused by congenital conditions, inflammatory conditions like rheumatoid arthritis, as a result of physical trauma, or infection.[9] It has been associated with Down syndrome, Morquio syndrome,[10] Marfan syndrome,[11][12] and Ehlers-Danlos syndrome.[13][14][15][16][17][18][19][20][21]
Cervical stenosis[edit | edit source]
Cervical spinal stenosis is a narrowing of the spinal canal in the neck.[22] Its symptoms can included pain, numbness, tingling, weakness and other symptoms seen in cervical medullary syndrome. A 2018 case study published by Peter Rowe found marked post-operative improvement of symptoms in three patients with severe myalgic encephalomyelitis, orthostatic intolerance and cervical spinal stenosis.
Tethered cord syndrome[edit | edit source]
Tarlov cysts[edit | edit source]
Association with syndromes[edit | edit source]
ME/CFS[edit | edit source]
Craniocervical instability
Cervical stenosis
Tarlov cysts
Fibromyalgia[edit | edit source]
Chiari malformation
Ehlers-Danlos Syndrome[edit | edit source]
Several pathologies of the spine have been associated with Ehlers-Danlos Syndrome. (Link to and reference Henderson et al)
Related[edit | edit source]
See also[edit | edit source]
References[edit | edit source]
- ↑ "Bragee Bertilson et al. - ME CFS and Intracranial Hypertension". Center for Open Science. November 27, 2019. Retrieved December 3, 2019. Cite has empty unknown parameter:
|dead-url=(help) - ↑ Henderson, Fraser C.; Austin, Claudiu; Benzel, Edward; Bolognese, Paolo; Ellenbogen, Richard; Francomano, Clair A.; Ireton, Candace; Klinge, Petra; Koby, Myles (2017). "Neurological and spinal manifestations of the Ehlers–Danlos syndromes". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 175 (1): 195–211. doi:10.1002/ajmg.c.31549. ISSN 1552-4876.
- ↑ Choi, Sung Ho; Lee, Sang Gu; Park, Chan Woo; Kim, Woo Kyung; Yoo, Chan Jong; Son, Seong (April 2013). "Surgical Outcomes and Complications after Occipito-Cervical Fusion Using the Screw-Rod System in Craniocervical Instability". Journal of Korean Neurosurgical Society. 53 (4): 223–227. doi:10.3340/jkns.2013.53.4.223. ISSN 2005-3711. PMC 3698232. PMID 23826478.
- ↑ Ashafai, Nabeel S.; Visocchi, Massimiliano; Wąsik, Norbert (2019). "Occipitocervical Fusion: An Updated Review". Acta Neurochirurgica. Supplement. 125: 247–252. doi:10.1007/978-3-319-62515-7_35. ISSN 0065-1419. PMID 30610329.
- ↑ Henderson, Fraser C. (2016). "Cranio-cervical Instability in Patients with Hypermobility Connective Disorders". Journal of Spine. 05 (02). doi:10.4172/2165-7939.1000299. ISSN 2165-7939.
- ↑ "Have you ruled out Chiari as a cause of your CFS". Phoenix Rising. Cite has empty unknown parameter:
|dead-url=(help) - ↑ Brea, Jennifer (June 6, 2019). "CCI + Tethered cord series". Medium. Retrieved June 6, 2019.
- ↑ "Craniocervical instability, Atlantoaxial Instability, Myalgic Encephalomyelitis, ME, CFS". MEchanical Basis. Retrieved June 6, 2019.
- ↑ "Atlantoaxial Instability: Background, Pathophysiology, Etiology". November 10, 2019. Cite journal requires
|journal=(help) - ↑ Li, Ming-Feng; Chiu, Pao-Chin; Weng, Mei-Jui; Lai, Ping-Hong (December 13, 2010). "Atlantoaxial Instability and Cervical Cord Compression in Morquio Syndrome". Archives of Neurology. 67 (12): 1530–1530. doi:10.1001/archneurol.2010.308. ISSN 0003-9942.
- ↑ Herzka, Andrea; Sponseller, Paul D.; Pyeritz, Reed E. (February 15, 2000). "Atlantoaxial Rotatory Subluxation in Patients With Marfan Syndrome: A Report of Three Cases". Spine. 25 (4): 524. ISSN 0362-2436.
- ↑ MacKenzie, James MacKintosh; Rankin, Rosslyn (December 2003). "Sudden Death Due to Atlantoaxial Subluxation in Marfan Syndrome". The American Journal of Forensic Medicine and Pathology. 24 (4): 369. doi:10.1097/01.paf.0000097853.26115.bb. ISSN 0195-7910.
- ↑ "Europe PMC". europepmc.org. Retrieved December 10, 2019.
- ↑ Henderson, Fraser C.; Austin, Claudiu; Benzel, Edward; Bolognese, Paolo; Ellenbogen, Richard; Francomano, Clair A.; Ireton, Candace; Klinge, Petra; Koby, Myles (2017). "Neurological and spinal manifestations of the Ehlers–Danlos syndromes". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 175 (1): 195–211. doi:10.1002/ajmg.c.31549. ISSN 1552-4876.
- ↑ Castori, Marco; Morlino, Silvia; Ghibellini, Giulia; Celletti, Claudia; Camerota, Filippo; Grammatico, Paola (2015). "Connective tissue, Ehlers–Danlos syndrome(s), and head and cervical pain". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 169 (1): 84–96. doi:10.1002/ajmg.c.31426. ISSN 1552-4876.
- ↑ Lane, D. (August 1, 2006). "Anaesthetic Implications of Vascular Type Ehlers-Danlos Syndrome". Anaesthesia and Intensive Care. 34 (4): 501–505. doi:10.1177/0310057X0603400412. ISSN 0310-057X.
- ↑ Dordoni, Chiara; Ciaccio, Claudia; Venturini, Marina; Calzavara‐Pinton, Piergiacomo; Ritelli, Marco; Colombi, Marina (2016). "Further delineation of FKBP14-related Ehlers–Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review". American Journal of Medical Genetics Part A. 170 (8): 2031–2038. doi:10.1002/ajmg.a.37728. ISSN 1552-4833.
- ↑ Giunta, Cecilia; Baumann, Matthias; Fauth, Christine; Lindert, Uschi; Abdalla, Ebtesam M.; Brady, Angela F.; Collins, James; Dastgir, Jahannaz; Donkervoort, Sandra (January 2018). "A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14 : expansion of the clinical and mutational spectrum and description of the natural history". Genetics in Medicine. 20 (1): 42–54. doi:10.1038/gim.2017.70. ISSN 1530-0366.
- ↑ "Europe PMC". europepmc.org. Retrieved December 10, 2019.
- ↑ Galan, Enrique; Kousseff, Boris G. (April 1, 1995). "Peripheral neuropathy in Ehlers-Danlos syndrome". Pediatric Neurology. 12 (3): 242–245. doi:10.1016/0887-8994(95)00003-X. ISSN 0887-8994.
- ↑ Wills, Brian P. D.; Dormans, John P. (April 2006). "Nontraumatic Upper Cervical Spine Instability in Children". JAAOS - Journal of the American Academy of Orthopaedic Surgeons. 14 (4): 233. ISSN 1067-151X.
- ↑ "Spinal stenosis - Symptoms and causes". Mayo Clinic. Retrieved January 29, 2019.
- ↑ Rowe, Peter C.; Marden, Colleen L.; Heinlein, Scott; Edwards, Charles C. (February 2, 2018). "Improvement of severe myalgic encephalomyelitis/chronic fatigue syndrome symptoms following surgical treatment of cervical spinal stenosis". Journal of Translational Medicine. 16. doi:10.1186/s12967-018-1397-7. ISSN 1479-5876. PMC 5796598. PMID 29391028.
