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Abnormality of the upper limb

MedGen UID:
866555
Concept ID:
C4020900
Anatomical Abnormality
Synonym: Abnormality of the arm
 
HPO: HP:0002817

Definition

An abnormality of the arm. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormality of the upper limb

Professional guidelines

PubMed

Yiu EM, Bray P, Baets J, Baker SK, Barisic N, de Valle K, Estilow T, Farrar MA, Finkel RS, Haberlová J, Kennedy RA, Moroni I, Nicholson GA, Ramchandren S, Reilly MM, Rose K, Shy ME, Siskind CE, Yum SW, Menezes MP, Ryan MM, Burns J
J Neurol Neurosurg Psychiatry 2022 May;93(5):530-538. Epub 2022 Feb 9 doi: 10.1136/jnnp-2021-328483. PMID: 35140138
Prasasya R, Grotheer KV, Siracusa LD, Bartolomei MS
Hum Mol Genet 2020 Sep 30;29(R1):R107-R116. doi: 10.1093/hmg/ddaa133. PMID: 32592473Free PMC Article
Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC
Nat Rev Genet 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. PMID: 29995837Free PMC Article

Recent clinical studies

Etiology

Wang H, Xiong X, Zhang K, Wang X, Sun C, Zhu B, Xu Y, Fan M, Tong S, Guo X, Sun L
CNS Neurosci Ther 2023 Feb;29(2):619-632. Epub 2022 Dec 27 doi: 10.1111/cns.14065. PMID: 36575865Free PMC Article
Tonkin MA
J Hand Surg Eur Vol 2017 Jun;42(5):448-456. Epub 2017 Feb 17 doi: 10.1177/1753193417690965. PMID: 28488459
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098
Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391Free PMC Article

Diagnosis

Holmes LB, Nasri HZ
Am J Med Genet A 2022 Jun;188(6):1746-1751. Epub 2022 Mar 2 doi: 10.1002/ajmg.a.62697. PMID: 35234329
Griffet J, Dieterich K, Bourg V, Bourgeois E
Orthop Traumatol Surg Res 2021 Feb;107(1S):102781. Epub 2020 Dec 13 doi: 10.1016/j.otsr.2020.102781. PMID: 33321243
Mende K, Vargesson N, Sivakumar B
J Hand Surg Eur Vol 2019 Mar;44(3):233-241. Epub 2018 Oct 31 doi: 10.1177/1753193418808130. PMID: 30380989
Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M
Curr Pediatr Rev 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. PMID: 29366421
Farrugia MC, Calleja-Agius J
Neonatal Netw 2016;35(3):135-42. doi: 10.1891/0730-0832.35.3.135. PMID: 27194607

Therapy

Wang H, Xiong X, Zhang K, Wang X, Sun C, Zhu B, Xu Y, Fan M, Tong S, Guo X, Sun L
CNS Neurosci Ther 2023 Feb;29(2):619-632. Epub 2022 Dec 27 doi: 10.1111/cns.14065. PMID: 36575865Free PMC Article
Nguyen KD, Corben LA, Pathirana PN, Horne MK, Delatycki MB, Szmulewicz DJ
IEEE Trans Neural Syst Rehabil Eng 2020 Apr;28(4):924-933. Epub 2020 Mar 2 doi: 10.1109/TNSRE.2020.2977354. PMID: 32142448
Chadwick N, Morag Y, Smith BW, Yablon C, Kim SM, Yang LJ
Br J Radiol 2019 Feb;92(1094):20180757. Epub 2018 Nov 1 doi: 10.1259/bjr.20180757. PMID: 30359100Free PMC Article
Oliveira MMF, Gurgel MSC, Amorim BJ, Ramos CD, Derchain S, Furlan-Santos N, Dos Santos CC, Sarian LO
PLoS One 2018;13(1):e0189176. Epub 2018 Jan 5 doi: 10.1371/journal.pone.0189176. PMID: 29304140Free PMC Article
Mutlu-Albayrak H, Bulut C, Çaksen H
Pediatr Neonatol 2017 Apr;58(2):158-164. Epub 2016 Jun 17 doi: 10.1016/j.pedneo.2016.01.009. PMID: 27422007

Prognosis

Le Hanneur M, Cambon-Binder A, Bachy M, Fitoussi F
Hand Surg Rehabil 2020 May;39(3):143-153. Epub 2020 Mar 3 doi: 10.1016/j.hansur.2019.12.003. PMID: 32142954
Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER
J Hand Surg Eur Vol 2019 Jan;44(1):59-68. Epub 2018 Oct 14 doi: 10.1177/1753193418803521. PMID: 30318985Free PMC Article
Bloom J, Upton J 3rd
J Hand Surg Am 2013 Dec;38(12):2508-12. Epub 2013 Oct 23 doi: 10.1016/j.jhsa.2013.08.120. PMID: 24161472
Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391Free PMC Article
Miller JK, Wenner SM, Kruger LM
J Hand Surg Am 1986 Nov;11(6):822-9. doi: 10.1016/s0363-5023(86)80230-1. PMID: 3794237

Clinical prediction guides

Wang H, Xiong X, Zhang K, Wang X, Sun C, Zhu B, Xu Y, Fan M, Tong S, Guo X, Sun L
CNS Neurosci Ther 2023 Feb;29(2):619-632. Epub 2022 Dec 27 doi: 10.1111/cns.14065. PMID: 36575865Free PMC Article
Le Hanneur M, Cambon-Binder A, Bachy M, Fitoussi F
Hand Surg Rehabil 2020 May;39(3):143-153. Epub 2020 Mar 3 doi: 10.1016/j.hansur.2019.12.003. PMID: 32142954
Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M
Curr Pediatr Rev 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. PMID: 29366421
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098

Recent systematic reviews

Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R
Ann Rheum Dis 2022 May;81(5):601-613. Epub 2022 Jan 27 doi: 10.1136/annrheumdis-2021-221814. PMID: 35086813Free PMC Article
Ogawa K, Matsumura N, Yoshida A
Arch Orthop Trauma Surg 2021 Nov;141(11):1877-1888. Epub 2020 Oct 30 doi: 10.1007/s00402-020-03657-3. PMID: 33125544
Giugliani R, Harmatz P, Lin SP, Scarpa M
Orphanet J Rare Dis 2020 Apr 19;15(1):97. doi: 10.1186/s13023-020-01368-x. PMID: 32306998Free PMC Article
Hubli M, Bolt D, Krassioukov AV
Spinal Cord 2018 Jun;56(6):528-537. Epub 2017 Dec 20 doi: 10.1038/s41393-017-0037-z. PMID: 29259348
Yammine K
Clin Anat 2014 May;27(4):610-21. Epub 2013 Dec 2 doi: 10.1002/ca.22343. PMID: 24302513

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