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Abnormal axial skeleton morphology

MedGen UID:
892434
•Concept ID:
C4024586
•
Anatomical Abnormality
Synonym: Abnormality of the axial skeleton
 
HPO: HP:0009121

Definition

An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal axial skeleton morphology

Professional guidelines

PubMed

Craniocervical instability in patients with Ehlers-Danlos syndrome: controversies in diagnosis and management.
Mao G, Kopparapu S, Jin Y, Davidar AD, Hersh AM, Weber-Levine C, Theodore N
Spine J 2022 Dec;22(12):1944-1952. Epub 2022 Aug 24 doi: 10.1016/j.spinee.2022.08.008. PMID: 36028216
Ulnar-Sided Wrist Pain in the Athlete: Sport-Specific Demands, Clinical Presentation, and Management Options.
Rios-Russo JL, Lozada-Bado LS, de Mel S, Frontera W, Micheo W
Curr Sports Med Rep 2021 Jun 1;20(6):312-318. doi: 10.1249/JSR.0000000000000853. PMID: 34099609
The differential diagnosis of traumatic lesions of the occipito-atlanto-axial segment.
Shapiro R, Youngberg AS, Rothman SL
Radiol Clin North Am 1973 Dec;11(3):505-26. PMID: 4202486

Recent clinical studies

Etiology

Craniovertebral junction abnormalities in Down syndrome.
Hankinson TC, Anderson RC
Neurosurgery 2010 Mar;66(3 Suppl):32-8. doi: 10.1227/01.NEU.0000365803.22786.F0. PMID: 20173525
Basilar invagination, Chiari malformation, syringomyelia: a review.
Goel A
Neurol India 2009 May-Jun;57(3):235-46. doi: 10.4103/0028-3886.53260. PMID: 19587461
Familial odontoid hypoplasia.
Stevens CA, Pearce RG, Burton EM
Am J Med Genet A 2009 Jun;149A(6):1290-2. doi: 10.1002/ajmg.a.32860. PMID: 19449423
Treatment of atlantoaxial instability in pediatric patients.
Rahimi SY, Stevens EA, Yeh DJ, Flannery AM, Choudhri HF, Lee MR
Neurosurg Focus 2003 Dec 15;15(6):ECP1. doi: 10.3171/foc.2003.15.6.7. PMID: 15305843
Congenital cervical spinal atrophy.
Darwish H, Sarnat H, Archer C, Brownell K, Kotagal S
Muscle Nerve 1981 Mar-Apr;4(2):106-10. doi: 10.1002/mus.880040205. PMID: 7207500

Diagnosis

Axial Imaging in Spondyloarthritis.
Mohan V, Hwang MC
Rheum Dis Clin North Am 2024 Nov;50(4):581-602. Epub 2024 Sep 13 doi: 10.1016/j.rdc.2024.07.002. PMID: 39415369Free PMC Article
Familial Os Odontoideum.
Prasad A, Shah A, Sasane S, Goel A
World Neurosurg 2020 Sep;141:215-218. Epub 2020 Jun 18 doi: 10.1016/j.wneu.2020.06.102. PMID: 32565378
Cervical spine anomalies in children and adolescents.
Kim HJ
Curr Opin Pediatr 2013 Feb;25(1):72-7. doi: 10.1097/MOP.0b013e32835bd4cf. PMID: 23263023
Discoid medial meniscus.
Tachibana Y, Yamazaki Y, Ninomiya S
Arthroscopy 2003 Sep;19(7):E12-8. doi: 10.1016/s0749-8063(03)00688-1. PMID: 12966402
Neuro-osteology.
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Therapy

Os odontoideum and craniovertebral junction instability secondary to dystonia: case series and review of the literature.
Kameda-Smith M, Biswas A, D'Arco F, Thompson D
Eur Spine J 2024 Mar;33(3):1164-1170. Epub 2023 Nov 23 doi: 10.1007/s00586-023-08044-1. PMID: 37994987
Cervical spine manifestations in patients with inflammatory arthritides.
Cha TD, An HS
Nat Rev Rheumatol 2013 Jul;9(7):423-32. Epub 2013 Mar 26 doi: 10.1038/nrrheum.2013.40. PMID: 23528639
Lumbar discography.
Guyer RD, Ohnmeiss DD; NASS
Spine J 2003 May-Jun;3(3 Suppl):11S-27S. doi: 10.1016/s1529-9430(02)00563-6. PMID: 14589214
Lower mesodermal defects: a common cause of fetal and early neonatal death.
Pauli RM
Am J Med Genet 1994 Apr 1;50(2):154-72. doi: 10.1002/ajmg.1320500206. PMID: 8010347
Osteoarticular complications of brucellosis.
Colmenero JD, Reguera JM, Fernández-Nebro A, Cabrera-Franquelo F
Ann Rheum Dis 1991 Jan;50(1):23-6. doi: 10.1136/ard.50.1.23. PMID: 1994863Free PMC Article

Prognosis

Gaucher Disease in Bone: From Pathophysiology to Practice.
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
Is S3 a Viable Osseous Fixation Pathway?
Eastman JG, Adams MR, Frisoli K, Chip Routt ML Jr
J Orthop Trauma 2018 Feb;32(2):93-99. doi: 10.1097/BOT.0000000000001036. PMID: 29065034
Treatment of atlantoaxial instability in pediatric patients.
Rahimi SY, Stevens EA, Yeh DJ, Flannery AM, Choudhri HF, Lee MR
Neurosurg Focus 2003 Dec 15;15(6):ECP1. doi: 10.3171/foc.2003.15.6.7. PMID: 15305843
Neuro-osteology.
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237
Congenital cervical spinal atrophy.
Darwish H, Sarnat H, Archer C, Brownell K, Kotagal S
Muscle Nerve 1981 Mar-Apr;4(2):106-10. doi: 10.1002/mus.880040205. PMID: 7207500

Clinical prediction guides

Os odontoideum and craniovertebral junction instability secondary to dystonia: case series and review of the literature.
Kameda-Smith M, Biswas A, D'Arco F, Thompson D
Eur Spine J 2024 Mar;33(3):1164-1170. Epub 2023 Nov 23 doi: 10.1007/s00586-023-08044-1. PMID: 37994987
Gaucher Disease in Bone: From Pathophysiology to Practice.
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
Familial odontoid hypoplasia.
Stevens CA, Pearce RG, Burton EM
Am J Med Genet A 2009 Jun;149A(6):1290-2. doi: 10.1002/ajmg.a.32860. PMID: 19449423
Ischiospinal dysostosis with rib gaps and nephroblastomatosis.
Spranger J, Self S, Clarkson KB, Pai GS
Clin Dysmorphol 2001 Jan;10(1):19-23. doi: 10.1097/00019605-200101000-00004. PMID: 11152142
Radiologic review: the cervical spine in juvenile rheumatoid arthritis.
Espada G, Babini JC, Maldonado-Cocco JA, García-Morteo O
Semin Arthritis Rheum 1988 Feb;17(3):185-95. doi: 10.1016/0049-0172(88)90019-4. PMID: 3072679

Recent systematic reviews

Systematic review of the nonsurgical management of atlantoaxial rotatory fixation in childhood.
Sae-Huang M, Borg A, Hill CS
J Neurosurg Pediatr 2021 Jan 1;27(1):108-119. Epub 2020 Oct 9 doi: 10.3171/2020.6.PEDS20396. PMID: 33036001
Grisel's syndrome in otolaryngology: a systematic review.
Karkos PD, Benton J, Leong SC, Mushi E, Sivaji N, Assimakopoulos DA
Int J Pediatr Otorhinolaryngol 2007 Dec;71(12):1823-7. Epub 2007 Aug 13 doi: 10.1016/j.ijporl.2007.07.002. PMID: 17706297

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