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Scoliosis, isolated, susceptibility to, 3(IS3)

MedGen UID:
373333
Concept ID:
C1837461
Finding
Synonyms: IS3; SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
 
Monarch Initiative: MONDO:0012115
OMIM®: 608765

Definition

Idiopathic scoliosis, an abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees, affects approximately 2 to 3% of the worldwide population and has a heritable component (summary by Bashiardes et al., 2004). For a discussion of genetic heterogeneity of isolated scoliosis, see IS1 (181800). [from OMIM]

Recent clinical studies

Etiology

Wise CA
Stud Health Technol Inform 2021 Jun 28;280:3-8. doi: 10.3233/SHTI210423. PMID: 34190051
Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Lupski JR, Posey JE, Chen S, Gong C, Wu N
J Genet Genomics 2021 May 20;48(5):396-402. Epub 2021 Mar 22 doi: 10.1016/j.jgg.2021.02.008. PMID: 34006472
Buchan JG, Alvarado DM, Haller G, Aferol H, Miller NH, Dobbs MB, Gurnett CA
Clin Orthop Relat Res 2014 Oct;472(10):3216-25. Epub 2014 Jul 9 doi: 10.1007/s11999-014-3766-8. PMID: 25005481Free PMC Article
Roye BD, Wright ML, Williams BA, Matsumoto H, Corona J, Hyman JE, Roye DP Jr, Vitale MG
Spine (Phila Pa 1976) 2012 Dec 1;37(25):2099-103. doi: 10.1097/BRS.0b013e31825eb605. PMID: 22614798
Colombo RE, Hill SC, Claypool RJ, Holland SM, Olivier KN
Chest 2010 Mar;137(3):629-34. Epub 2009 Oct 26 doi: 10.1378/chest.09-1173. PMID: 19858235Free PMC Article

Diagnosis

Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Lupski JR, Posey JE, Chen S, Gong C, Wu N
J Genet Genomics 2021 May 20;48(5):396-402. Epub 2021 Mar 22 doi: 10.1016/j.jgg.2021.02.008. PMID: 34006472
Buchan JG, Alvarado DM, Haller G, Aferol H, Miller NH, Dobbs MB, Gurnett CA
Clin Orthop Relat Res 2014 Oct;472(10):3216-25. Epub 2014 Jul 9 doi: 10.1007/s11999-014-3766-8. PMID: 25005481Free PMC Article
Roye BD, Wright ML, Williams BA, Matsumoto H, Corona J, Hyman JE, Roye DP Jr, Vitale MG
Spine (Phila Pa 1976) 2012 Dec 1;37(25):2099-103. doi: 10.1097/BRS.0b013e31825eb605. PMID: 22614798
Colombo RE, Hill SC, Claypool RJ, Holland SM, Olivier KN
Chest 2010 Mar;137(3):629-34. Epub 2009 Oct 26 doi: 10.1378/chest.09-1173. PMID: 19858235Free PMC Article

Prognosis

Roye BD, Wright ML, Williams BA, Matsumoto H, Corona J, Hyman JE, Roye DP Jr, Vitale MG
Spine (Phila Pa 1976) 2012 Dec 1;37(25):2099-103. doi: 10.1097/BRS.0b013e31825eb605. PMID: 22614798
Colombo RE, Hill SC, Claypool RJ, Holland SM, Olivier KN
Chest 2010 Mar;137(3):629-34. Epub 2009 Oct 26 doi: 10.1378/chest.09-1173. PMID: 19858235Free PMC Article
Paulino AC, Mayr NA, Simon JH, Buatti JM
Int J Radiat Oncol Biol Phys 2002 Mar 15;52(4):1025-31. doi: 10.1016/s0360-3016(01)02713-4. PMID: 11958898

Clinical prediction guides

Wise CA
Stud Health Technol Inform 2021 Jun 28;280:3-8. doi: 10.3233/SHTI210423. PMID: 34190051
Roye BD, Wright ML, Williams BA, Matsumoto H, Corona J, Hyman JE, Roye DP Jr, Vitale MG
Spine (Phila Pa 1976) 2012 Dec 1;37(25):2099-103. doi: 10.1097/BRS.0b013e31825eb605. PMID: 22614798

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