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Abnormal long bone morphology

MedGen UID:
866811
Concept ID:
C4021165
Anatomical Abnormality
Synonym: Abnormality of long bone morphology
 
HPO: HP:0011314

Definition

An abnormality of size or shape of the long bones. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal long bone morphology

Conditions with this feature

Enchondromatosis
MedGen UID:
41775
Concept ID:
C0014084
Finding
Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; spondyloenchondrodysplasia (607944), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).
Osteodysplasty, precocious, of Danks, Mayne, and Kozlowski
MedGen UID:
337989
Concept ID:
C1850185
Disease or Syndrome

Professional guidelines

PubMed

Cunin V
Orthop Traumatol Surg Res 2015 Feb;101(1 Suppl):S109-18. Epub 2015 Jan 23 doi: 10.1016/j.otsr.2014.06.032. PMID: 25623270
Rubio-Tapia A, Hill ID, Kelly CP, Calderwood AH, Murray JA; American College of Gastroenterology
Am J Gastroenterol 2013 May;108(5):656-76; quiz 677. Epub 2013 Apr 23 doi: 10.1038/ajg.2013.79. PMID: 23609613Free PMC Article
Dragoo JL, Johnson C, McConnell J
Sports Med 2012 Jan 1;42(1):51-67. doi: 10.2165/11595680-000000000-00000. PMID: 22149697

Recent clinical studies

Etiology

Chiarito M, Brunetti G, D'Amato G, Faienza MF
Expert Rev Endocrinol Metab 2020 Nov;15(6):431-438. Epub 2020 Oct 19 doi: 10.1080/17446651.2020.1834846. PMID: 33074770
Augoulea A, Zachou G, Lambrinoudaki I
Maturitas 2019 Dec;130:41-49. Epub 2019 Sep 25 doi: 10.1016/j.maturitas.2019.09.010. PMID: 31706435
Rubin MR
Bone 2019 Mar;120:548-555. Epub 2018 Nov 19 doi: 10.1016/j.bone.2018.11.012. PMID: 30465918
Alabaster K, Fred Bugg M, Splavski B, Boop FA, Arnautovic KI
J Neurosurg 2018 Jan;128(1):165-173. Epub 2017 Apr 14 doi: 10.3171/2016.10.JNS162161. PMID: 28409726
Li G, Yin J, Gao J, Cheng TS, Pavlos NJ, Zhang C, Zheng MH
Arthritis Res Ther 2013;15(6):223. doi: 10.1186/ar4405. PMID: 24321104Free PMC Article

Diagnosis

Chiarito M, Brunetti G, D'Amato G, Faienza MF
Expert Rev Endocrinol Metab 2020 Nov;15(6):431-438. Epub 2020 Oct 19 doi: 10.1080/17446651.2020.1834846. PMID: 33074770
Augoulea A, Zachou G, Lambrinoudaki I
Maturitas 2019 Dec;130:41-49. Epub 2019 Sep 25 doi: 10.1016/j.maturitas.2019.09.010. PMID: 31706435
Swensen SJ, Otsuka NY
Foot Ankle Clin 2015 Dec;20(4):669-79. doi: 10.1016/j.fcl.2015.08.001. PMID: 26589085
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
McDougall IR
West J Med 1979 Jun;130(6):503-14. PMID: 390886Free PMC Article

Therapy

Tyutyusheva N, Mancini I, Baroncelli GI, D'Elios S, Peroni D, Meriggiola MC, Bertelloni S
Int J Mol Sci 2021 Jan 27;22(3) doi: 10.3390/ijms22031264. PMID: 33514065Free PMC Article
Robinson ME, AlQuorain H, Murshed M, Rauch F
Pediatr Nephrol 2020 Oct;35(10):1843-1854. Epub 2019 Aug 8 doi: 10.1007/s00467-019-04290-y. PMID: 31392510
Soper JR, Bonar SF, O'Sullivan DJ, McCredie J, Willert HG
Skeletal Radiol 2019 Apr;48(4):517-525. Epub 2018 Oct 19 doi: 10.1007/s00256-018-3086-2. PMID: 30341712Free PMC Article
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Black DM, Schwartz AV, Ensrud KE, Cauley JA, Levis S, Quandt SA, Satterfield S, Wallace RB, Bauer DC, Palermo L, Wehren LE, Lombardi A, Santora AC, Cummings SR; FLEX Research Group
JAMA 2006 Dec 27;296(24):2927-38. doi: 10.1001/jama.296.24.2927. PMID: 17190893

Prognosis

Huang PJ, Lin JH, Chiang YH
World Neurosurg 2020 Jun;138:e634-e641. Epub 2020 Mar 13 doi: 10.1016/j.wneu.2020.03.023. PMID: 32173550
Wesseling-Perry K
Pediatr Nephrol 2013 Apr;28(4):569-76. Epub 2012 Oct 14 doi: 10.1007/s00467-012-2324-4. PMID: 23064662Free PMC Article
Lombardi G, Akoume MY, Colombini A, Moreau A, Banfi G
Adv Clin Chem 2011;54:165-82. doi: 10.1016/b978-0-12-387025-4.00007-8. PMID: 21874761
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
McDougall IR
West J Med 1979 Jun;130(6):503-14. PMID: 390886Free PMC Article

Clinical prediction guides

Lira Dos Santos EJ, Nakajima K, Po J, Hanai A, Zhukouskaya V, Biosse Duplan M, Linglart A, Shimada T, Chaussain C, Bardet C
Int J Oral Sci 2023 Dec 6;15(1):53. doi: 10.1038/s41368-023-00259-8. PMID: 38052774Free PMC Article
Haffner D, Leifheit-Nestler M, Alioli C, Bacchetta J
Cells 2022 Jan 5;11(1) doi: 10.3390/cells11010170. PMID: 35011732Free PMC Article
Becker SK
Int J Paleopathol 2020 Jun;29:45-53. Epub 2019 Aug 28 doi: 10.1016/j.ijpp.2019.08.005. PMID: 31473173
Soper JR, Bonar SF, O'Sullivan DJ, McCredie J, Willert HG
Skeletal Radiol 2019 Apr;48(4):517-525. Epub 2018 Oct 19 doi: 10.1007/s00256-018-3086-2. PMID: 30341712Free PMC Article
Evans RA, Hughes WG, Dunstan CR, Lennon WP, Kohan L, Hills E, Wong SY
Metab Bone Dis Relat Res 1983-1984;5(3):111-7. doi: 10.1016/0221-8747(83)90011-5. PMID: 6676625

Recent systematic reviews

Tse KY, Surya IU, Irwinda R, Leung KY, Ting YH, Cao Y, Choy KW
Genes (Basel) 2023 May 30;14(6) doi: 10.3390/genes14061203. PMID: 37372383Free PMC Article
Stuebe CM, Rindler RS, Laack N, Carr CM, Choby G, Inwards CY, Van Gompel JJ
World Neurosurg 2023 Jun;174:157-168. Epub 2023 Mar 9 doi: 10.1016/j.wneu.2023.03.016. PMID: 36898627
Carbullido MK, Dean RA, Kamel GN, Davis GL, Hornacek M, Segal RM, Ewing E, Lance SH, Gosman AA
Cleft Palate Craniofac J 2022 Jan;59(1):86-97. Epub 2021 Feb 25 doi: 10.1177/1055665621995047. PMID: 33631994
Wu C, Pan W, Feng C, Su Z, Duan Z, Zheng Q, Hua C, Li C
Int J Oral Maxillofac Surg 2018 Mar;47(3):345-356. Epub 2017 Aug 31 doi: 10.1016/j.ijom.2017.08.003. PMID: 28863859
Smuin DM, Swenson RD, Dhawan A
Arthroscopy 2017 Sep;33(9):1733-1742. doi: 10.1016/j.arthro.2017.03.028. PMID: 28865577

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