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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

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
Rosenbaum JT
Ocul Immunol Inflamm 2016 Aug;24(4):445-9. Epub 2016 Apr 12 doi: 10.3109/09273948.2016.1158277. PMID: 27070270Free PMC Article
Menezes AH
Semin Pediatr Neurol 1997 Sep;4(3):209-23. doi: 10.1016/s1071-9091(97)80038-1. PMID: 9323790

Recent clinical studies

Etiology

Hresko MT, Deckey DG, Hinchcliff E, Kalish LA
Spine Deform 2019 Nov;7(6):945-949. doi: 10.1016/j.jspd.2019.03.008. PMID: 31732006
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
Borenstein D
Curr Pain Headache Rep 2004 Dec;8(6):512-7. doi: 10.1007/s11916-004-0075-z. PMID: 15509467
Borenstein D
Curr Rheumatol Rep 2004 Feb;6(1):14-9. doi: 10.1007/s11926-004-0079-z. PMID: 14713398
Moore MH
J Craniofac Surg 1996 Nov;7(6):408-11. doi: 10.1097/00001665-199611000-00003. PMID: 10332258

Diagnosis

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
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
Tyl RW, Chernoff N, Rogers JM
Birth Defects Res B Dev Reprod Toxicol 2007 Dec;80(6):451-72. doi: 10.1002/bdrb.20134. PMID: 18157900
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
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Therapy

Wen X, Cimera R, Aryeequaye R, Abhinta M, Athanasian E, Healey J, Fabbri N, Boland P, Zhang Y, Hameed M
Genes Chromosomes Cancer 2021 Dec;60(12):796-807. Epub 2021 Aug 26 doi: 10.1002/gcc.22992. PMID: 34392582Free PMC Article
Ahmed R, Traynelis VC, Menezes AH
Childs Nerv Syst 2008 Oct;24(10):1209-24. Epub 2008 Apr 4 doi: 10.1007/s00381-008-0607-7. PMID: 18389260
Nielsen BW, Mølsted K, Kjaer I
Cleft Palate Craniofac J 2005 Nov;42(6):610-7. doi: 10.1597/04-104r.1. PMID: 16241172
Birch JG, Samchukov ML
J Am Acad Orthop Surg 2004 May-Jun;12(3):144-54. doi: 10.5435/00124635-200405000-00002. PMID: 15161167
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

Prognosis

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
Haroon M, Fitzgerald O
J Rheumatol Suppl 2012 Jul;89:7-10. doi: 10.3899/jrheum.120232. PMID: 22751581
Olivieri I, D'Angelo S, Palazzi C, Padula A, Mader R, Khan MA
Curr Rheumatol Rep 2009 Oct;11(5):321-8. doi: 10.1007/s11926-009-0046-9. PMID: 19772826
Goodman FR
Am J Med Genet 2002 Oct 15;112(3):256-65. doi: 10.1002/ajmg.10776. PMID: 12357469
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Clinical prediction guides

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
Haroon M, Fitzgerald O
J Rheumatol Suppl 2012 Jul;89:7-10. doi: 10.3899/jrheum.120232. PMID: 22751581
Menezes AH
J Neurosurg Pediatr 2012 Jun;9(6):573-85. doi: 10.3171/2012.2.PEDS11371. PMID: 22656246
Alexander PG, Tuan RS
Birth Defects Res C Embryo Today 2010 Jun;90(2):118-32. doi: 10.1002/bdrc.20179. PMID: 20544699
Goodman FR
Am J Med Genet 2002 Oct 15;112(3):256-65. doi: 10.1002/ajmg.10776. PMID: 12357469

Recent systematic reviews

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
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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