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Bent long bone

MedGen UID:
1842053
Concept ID:
C5826454
Anatomical Abnormality
HPO: HP:0034530

Definition

A developmental defect of a long bone, such as the femur or the humerus, characterized by a sharply curve deviation located in the metaphysis (shaft) of the bone. [from HPO]

Conditions with this feature

Bent bone dysplasia syndrome 1
MedGen UID:
482877
Concept ID:
C3281247
Disease or Syndrome
Bent bone dysplasia syndrome-1 (BBDS1) is a perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones (Merrill et al., 2012). Genetic Heterogeneity of Bent Bone Dysplasia Syndrome BBDS2 (620076) is caused by mutation in the LAMA5 gene (601033) on chromosome 20q13.

Professional guidelines

PubMed

Bondioni MP, Pazzaglia UE, Izzi C, Di Gaetano G, Laffranchi F, Baldi M, Prefumo F
Radiol Med 2017 Nov;122(11):880-891. Epub 2017 Jul 3 doi: 10.1007/s11547-017-0784-0. PMID: 28674909
Chieng LO, Madhavan K, Wang MY
J Clin Neurosci 2015 Oct;22(10):1555-61. Epub 2015 Aug 28 doi: 10.1016/j.jocn.2015.05.018. PMID: 26321306
Schettler D, Rehrmann A
J Maxillofac Surg 1975 Mar;3(1):14-22. doi: 10.1016/s0301-0503(75)80008-7. PMID: 1055173

Recent clinical studies

Etiology

Fralinger DJ, Kraft DB, Rogers KJ, Thacker MM, Kruse RW, Franzone JM
J Pediatr Orthop 2023 Jul 1;43(6):e465-e470. Epub 2023 Apr 6 doi: 10.1097/BPO.0000000000002409. PMID: 37026790
Popkov A, Dučić S, Lazović M, Lascombes P, Popkov D
Injury 2019 Jun;50 Suppl 1:S79-S86. Epub 2019 Apr 8 doi: 10.1016/j.injury.2019.03.045. PMID: 30987742
Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E
J Bone Miner Res 2018 Apr;33(4):753-760. Epub 2018 Jan 4 doi: 10.1002/jbmr.3348. PMID: 29178448
Popkov A, Foster P, Gubin A, Borzunov D, Popkov D
Expert Rev Med Devices 2017 Sep;14(9):741-753. Epub 2017 Aug 18 doi: 10.1080/17434440.2017.1367284. PMID: 28817981
Chieng LO, Madhavan K, Wang MY
J Clin Neurosci 2015 Oct;22(10):1555-61. Epub 2015 Aug 28 doi: 10.1016/j.jocn.2015.05.018. PMID: 26321306

Diagnosis

Weng SP, Wu TM, Chien CS, Lin SH
BMC Musculoskelet Disord 2021 Aug 30;22(1):748. doi: 10.1186/s12891-021-04630-w. PMID: 34461874Free PMC Article
Selvakumaran G, Williams N
Aust J Gen Pract 2020 Nov;49(11):740-744. doi: 10.31128/AJGP-10-19-5132. PMID: 33123705
Irlenbusch U, Rott O, Irlenbusch L
Z Orthop Unfall 2018 Feb;156(1):53-61. Epub 2018 Feb 22 doi: 10.1055/s-0043-121699. PMID: 29471558
Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E
J Bone Miner Res 2018 Apr;33(4):753-760. Epub 2018 Jan 4 doi: 10.1002/jbmr.3348. PMID: 29178448
Zhou Y, Teomete U, Dandin O, Osman O, Dandinoglu T, Bagci U, Zhao W
Comput Biol Med 2016 Nov 1;78:120-125. Epub 2016 Sep 17 doi: 10.1016/j.compbiomed.2016.09.013. PMID: 27684324

Therapy

Jiao Y, Tan H, Feng E, Wang Z, Lin Y, Zhao J, Shen J
BMC Musculoskelet Disord 2022 Aug 13;23(1):775. doi: 10.1186/s12891-022-05732-9. PMID: 35964038Free PMC Article
Shamrock A, Leary S, Kohler J, Karam M, Carender C, DeMik D, Nepola J
Iowa Orthop J 2021;41(1):167-170. PMID: 34552420Free PMC Article
Franz-Odendaal TA, Edsall SC
Stem Cells Dev 2018 Sep 15;27(18):1278-1286. Epub 2018 Jul 9 doi: 10.1089/scd.2017.0266. PMID: 29790426
Chieng LO, Madhavan K, Wang MY
J Clin Neurosci 2015 Oct;22(10):1555-61. Epub 2015 Aug 28 doi: 10.1016/j.jocn.2015.05.018. PMID: 26321306
Ueki K, Nakagawa K, Takatsuka S, Yamamoto E
Int J Oral Maxillofac Surg 2001 Dec;30(6):490-6. doi: 10.1054/ijom.2001.0171. PMID: 11829230

Prognosis

Irlenbusch U, Rott O, Irlenbusch L
Z Orthop Unfall 2018 Feb;156(1):53-61. Epub 2018 Feb 22 doi: 10.1055/s-0043-121699. PMID: 29471558
Ueki K, Marukawa K, Moroi A, Sotobori M, Ishihara Y, Iguchi R, Kosaka A, Nakano Y, Higuchi M, Nakazawa R, Ikawa H
J Craniomaxillofac Surg 2014 Jul;42(5):e210-6. Epub 2013 Sep 14 doi: 10.1016/j.jcms.2013.08.009. PMID: 24095217
Harder H, Cornelissen JJ, Van Gool AR, Duivenvoorden HJ, Eijkenboom WM, van den Bent MJ
Cancer 2002 Jul 1;95(1):183-92. doi: 10.1002/cncr.10627. PMID: 12115332
Ueki K, Nakagawa K, Takatsuka S, Yamamoto E
Int J Oral Maxillofac Surg 2001 Dec;30(6):490-6. doi: 10.1054/ijom.2001.0171. PMID: 11829230
Schmalzried TP, Harris WH
J Bone Joint Surg Am 1992 Sep;74(8):1130-9. PMID: 1400541

Clinical prediction guides

Doğramaci EJ, Decurcio DA, Chen CJ, Estrela C, Rossi-Fedele G
Braz Oral Res 2021;35:e065. Epub 2021 May 31 doi: 10.1590/1807-3107bor-2021.vol35.0065. PMID: 34076190
Guo X, Wang B, An Y, Jin X, Guo Z, Han S, Huo Y, Liu L
Clin Spine Surg 2021 Nov 1;34(9):E506-E513. doi: 10.1097/BSD.0000000000001198. PMID: 34029262
Huang H, Xing W, Zeng C, Huang W
Injury 2021 Oct;52(10):2719-2724. Epub 2020 May 1 doi: 10.1016/j.injury.2020.03.049. PMID: 32430192
Franz-Odendaal TA, Edsall SC
Stem Cells Dev 2018 Sep 15;27(18):1278-1286. Epub 2018 Jul 9 doi: 10.1089/scd.2017.0266. PMID: 29790426
Irlenbusch U, Rott O, Irlenbusch L
Z Orthop Unfall 2018 Feb;156(1):53-61. Epub 2018 Feb 22 doi: 10.1055/s-0043-121699. PMID: 29471558

Recent systematic reviews

Barbosa CCL, Romanzini CLP, Batista MB, Fernandes RA, Romanzini M, Kemper H, Coelho-E-Silva MJ, Ronque ERV
Rev Paul Pediatr 2020;38:e2019119. Epub 2020 Mar 9 doi: 10.1590/1984-0462/2020/38/2019119. PMID: 32159647Free PMC Article
Chieng LO, Madhavan K, Wang MY
J Clin Neurosci 2015 Oct;22(10):1555-61. Epub 2015 Aug 28 doi: 10.1016/j.jocn.2015.05.018. PMID: 26321306

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