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Abnormality of connective tissue

MedGen UID:
871127
Concept ID:
C4025596
Anatomical Abnormality
HPO: HP:0003549

Definition

Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of connective tissue

Professional guidelines

PubMed

Mokri B
Curr Opin Neurol 2003 Jun;16(3):319-26. doi: 10.1097/01.wco.0000073933.19076.c0. PMID: 12858068
Perloff JK, Child JS, Edwards JE
Am J Cardiol 1986 May 1;57(13):1124-9. doi: 10.1016/0002-9149(86)90686-7. PMID: 3706164

Recent clinical studies

Etiology

Asif MI, Kalra N, Sharma N, Jain N, Sharma M, Sinha R
Indian J Ophthalmol 2023 Jun;71(6):2385-2398. doi: 10.4103/ijo.IJO_286_22. PMID: 37322648Free PMC Article
Alsiri N, Alhadhoud M, Alkatefi T, Palmer S
Semin Arthritis Rheum 2023 Feb;58:152127. Epub 2022 Nov 17 doi: 10.1016/j.semarthrit.2022.152127. PMID: 36462303
Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q
Genet Med 2022 Jan;24(1):75-86. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.08.011. PMID: 34906475Free PMC Article
Sarangi SN, Acharya SS
Pediatrics 2017 Feb;139(2) Epub 2017 Jan 6 doi: 10.1542/peds.2015-4360. PMID: 28062601
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697

Diagnosis

Aparisi Gómez MP, Trisolino G, Sangiorgi L, Guglielmi G, Bazzocchi A
Semin Musculoskelet Radiol 2021 Feb;25(1):22-38. Epub 2021 May 21 doi: 10.1055/s-0041-1723964. PMID: 34020466
Ramírez-Cheyne JA, Duque GA, Ayala-Zapata S, Saldarriaga-Gil W, Hagerman P, Hagerman R, Payán-Gómez C
Clin Genet 2019 Feb;95(2):262-267. Epub 2018 Nov 27 doi: 10.1111/cge.13469. PMID: 30414172
Sarangi SN, Acharya SS
Pediatrics 2017 Feb;139(2) Epub 2017 Jan 6 doi: 10.1542/peds.2015-4360. PMID: 28062601
Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697

Therapy

Bina S, Pacey V, Barnes EH, Burns J, Gray K
Cochrane Database Syst Rev 2020 May 15;5(5):CD008602. doi: 10.1002/14651858.CD008602.pub4. PMID: 32412098Free PMC Article
Cao Y, Hong Y, Xu Y, Zhu Y, Xu X
J Orthop Surg Res 2018 Jun 25;13(1):159. doi: 10.1186/s13018-018-0870-6. PMID: 29940985Free PMC Article
O'Brien L, Jones DJ
Cochrane Database Syst Rev 2013 Sep 12;2013(9):CD003826. doi: 10.1002/14651858.CD003826.pub3. PMID: 24030657Free PMC Article
Judge DP, Dietz HC
Lancet 2005 Dec 3;366(9501):1965-76. doi: 10.1016/S0140-6736(05)67789-6. PMID: 16325700Free PMC Article
Sibrack LA, Mazur EM, Hoffman R, Bollet AJ
Clin Rheum Dis 1982 Aug;8(2):443-54. PMID: 6754236

Prognosis

Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q
Genet Med 2022 Jan;24(1):75-86. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.08.011. PMID: 34906475Free PMC Article
Aparisi Gómez MP, Trisolino G, Sangiorgi L, Guglielmi G, Bazzocchi A
Semin Musculoskelet Radiol 2021 Feb;25(1):22-38. Epub 2021 May 21 doi: 10.1055/s-0041-1723964. PMID: 34020466
Saw J, Humphries K, Aymong E, Sedlak T, Prakash R, Starovoytov A, Mancini GBJ
J Am Coll Cardiol 2017 Aug 29;70(9):1148-1158. doi: 10.1016/j.jacc.2017.06.053. PMID: 28838364
Osovska N, Kuzminova N, Ovcharuk M, Serhiychuk O
Georgian Med News 2016 Jun;(255):66-77. PMID: 27441539
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Clinical prediction guides

Alsiri N, Alhadhoud M, Alkatefi T, Palmer S
Semin Arthritis Rheum 2023 Feb;58:152127. Epub 2022 Nov 17 doi: 10.1016/j.semarthrit.2022.152127. PMID: 36462303
Załęski A, Gawrońska A, Albrecht P, Banasiuk M
Sci Rep 2022 Jan 19;12(1):1026. doi: 10.1038/s41598-022-05115-z. PMID: 35046501Free PMC Article
Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q
Genet Med 2022 Jan;24(1):75-86. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.08.011. PMID: 34906475Free PMC Article
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697
Smith AT, Sack GH Jr, Taylor GJ
J Pediatr 1979 Oct;95(4):538-43. doi: 10.1016/s0022-3476(79)80758-1. PMID: 480027

Recent systematic reviews

Leszczynski R, da Silva CA, Pinto ACPN, Kuczynski U, da Silva EM
Cochrane Database Syst Rev 2022 Sep 26;9(9):CD011642. doi: 10.1002/14651858.CD011642.pub2. PMID: 36161591Free PMC Article
Murji A, Sanders AP, Monteiro I, Haiderbhai S, Matelski J, Walsh C, Abbott JA, Munro MG, Maheux-Lacroix S; International Federation of Gynecology and Obstetrics (FIGO) Committee on Menstrual Disorders and Related Health Impacts
Fertil Steril 2022 Oct;118(4):758-766. Epub 2022 Aug 17 doi: 10.1016/j.fertnstert.2022.06.031. PMID: 35985862
Thwaites PA, Gibson PR, Burgell RE
J Gastroenterol Hepatol 2022 Sep;37(9):1693-1709. Epub 2022 Jul 20 doi: 10.1111/jgh.15927. PMID: 35750466Free PMC Article
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564
Hsu CY, Chen LR, Chen KH
Int J Mol Sci 2020 Sep 18;21(18) doi: 10.3390/ijms21186846. PMID: 32961953Free PMC Article

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