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Abnormal diaphysis morphology

MedGen UID:
867416
Concept ID:
C4021787
Anatomical Abnormality
Synonym: Anomaly of the limb diaphyses
 
HPO: HP:0000940

Definition

An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. [from HPO]

Professional guidelines

PubMed

Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020261. PMID: 35205306Free PMC Article
Innmann MM, Hasberg S, Waldstein W, Grammatopoulos G, Gill HS, Pegg EC, Aldinger PR, Merle C
Clin Radiol 2019 Nov;74(11):896.e17-896.e22. Epub 2019 Aug 26 doi: 10.1016/j.crad.2019.06.032. PMID: 31466797
Ofluoglu O, Davidson RS, Dormans JP
J Bone Joint Surg Am 2008 Oct;90(10):2126-34. doi: 10.2106/JBJS.G.00272. PMID: 18829910

Recent clinical studies

Etiology

Dasci MF, Kose O, Budin M, Kara S, Gehrke T, Citak M
Arch Orthop Trauma Surg 2023 Nov;143(11):6773-6779. Epub 2023 Jul 4 doi: 10.1007/s00402-023-04959-y. PMID: 37400672
Derin Cicek E, Cevik H
Acta Orthop Belg 2021 Jun;87(2):275-283. PMID: 34529381
Barbier D, Journeau P, Lascombes P, Dohin B, Cottalorda J, Sales de Gauzy J
Orthop Traumatol Surg Res 2019 May;105(3):551-556. Epub 2019 Apr 8 doi: 10.1016/j.otsr.2018.10.026. PMID: 30975636
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
Faden MA, Krakow D, Ezgu F, Rimoin DL, Lachman RS
Am J Med Genet A 2009 Jun;149A(6):1334-45. doi: 10.1002/ajmg.a.32253. PMID: 19444897Free PMC Article

Diagnosis

Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020261. PMID: 35205306Free PMC Article
Barbier D, Journeau P, Lascombes P, Dohin B, Cottalorda J, Sales de Gauzy J
Orthop Traumatol Surg Res 2019 May;105(3):551-556. Epub 2019 Apr 8 doi: 10.1016/j.otsr.2018.10.026. PMID: 30975636
Yap FY, Skalski MR, Patel DB, Schein AJ, White EA, Tomasian A, Masih S, Matcuk GR Jr
Radiographics 2017 Jan-Feb;37(1):157-195. Epub 2016 Dec 9 doi: 10.1148/rg.2017160052. PMID: 27935768
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
Jaramillo D
Pediatr Radiol 2010 Jun;40(6):978-84. Epub 2010 Apr 30 doi: 10.1007/s00247-010-1608-8. PMID: 20432017

Therapy

Dasci MF, Kose O, Budin M, Kara S, Gehrke T, Citak M
Arch Orthop Trauma Surg 2023 Nov;143(11):6773-6779. Epub 2023 Jul 4 doi: 10.1007/s00402-023-04959-y. PMID: 37400672
Liu WC, Shyu JF, Lin YF, Chiu HW, Lim PS, Lu CL, Zheng CM, Hou YC, Chen PH, Lu KC
Int J Mol Sci 2020 Oct 11;21(20) doi: 10.3390/ijms21207483. PMID: 33050571Free PMC Article
Suo H, Fu L, Wang Z, Liang H, Xu Z, Feng W
Medicine (Baltimore) 2020 Jan;99(4):e18807. doi: 10.1097/MD.0000000000018807. PMID: 31977874Free PMC Article
Liebensteiner MC, Ressler J, Seitlinger G, Djurdjevic T, El Attal R, Ferlic PW
Arthroscopy 2016 Nov;32(11):2295-2299. Epub 2016 May 18 doi: 10.1016/j.arthro.2016.03.023. PMID: 27209622
Patel A, Li L, Anand A
Injury 2014 Aug;45(8):1135-43. Epub 2014 May 2 doi: 10.1016/j.injury.2014.04.020. PMID: 24845408

Prognosis

Augusto ACL, Goes PCK, Flores DV, Costa MAF, Takahashi MS, Rodrigues ACO, Padula LC, Gasparetto TD, Nogueira-Barbosa MH, Aihara AY
Radiographics 2022 May-Jun;42(3):861-879. Epub 2022 Feb 25 doi: 10.1148/rg.210088. PMID: 35213260
Suo H, Fu L, Wang Z, Liang H, Xu Z, Feng W
Medicine (Baltimore) 2020 Jan;99(4):e18807. doi: 10.1097/MD.0000000000018807. PMID: 31977874Free PMC Article
Yap FY, Skalski MR, Patel DB, Schein AJ, White EA, Tomasian A, Masih S, Matcuk GR Jr
Radiographics 2017 Jan-Feb;37(1):157-195. Epub 2016 Dec 9 doi: 10.1148/rg.2017160052. PMID: 27935768
Stevens PM, Klatt JB
J Pediatr Orthop 2008 Sep;28(6):632-9. doi: 10.1097/BPO.0b013e3181841fda. PMID: 18724199
Berry DJ
Clin Orthop Relat Res 1999 Dec;(369):262-72. doi: 10.1097/00003086-199912000-00027. PMID: 10611881

Clinical prediction guides

Augusto ACL, Goes PCK, Flores DV, Costa MAF, Takahashi MS, Rodrigues ACO, Padula LC, Gasparetto TD, Nogueira-Barbosa MH, Aihara AY
Radiographics 2022 May-Jun;42(3):861-879. Epub 2022 Feb 25 doi: 10.1148/rg.210088. PMID: 35213260
Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020261. PMID: 35205306Free PMC Article
Barbier D, Journeau P, Lascombes P, Dohin B, Cottalorda J, Sales de Gauzy J
Orthop Traumatol Surg Res 2019 May;105(3):551-556. Epub 2019 Apr 8 doi: 10.1016/j.otsr.2018.10.026. PMID: 30975636
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
Frydman M, Katz M, Cabot SG, Soen G, Kauschansky A, Sirota L
Am J Med Genet 1997 Aug 22;71(3):251-7. doi: 10.1002/(sici)1096-8628(19970822)71:3<251::aid-ajmg1>3.0.co;2-x. PMID: 9268091

Recent systematic reviews

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