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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

Patnaik MM, Tefferi A
Am J Hematol 2024 Jun;99(6):1142-1165. Epub 2024 Mar 7 doi: 10.1002/ajh.27271. PMID: 38450850Free PMC Article
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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
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Arthritis Res Ther 2013;15(6):223. doi: 10.1186/ar4405. PMID: 24321104Free PMC Article

Diagnosis

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
Morcel K, Camborieux L; Programme de Recherches sur les Aplasies Müllériennes, Guerrier D
Orphanet J Rare Dis 2007 Mar 14;2:13. doi: 10.1186/1750-1172-2-13. PMID: 17359527Free PMC Article
Maschke SD, Seitz W, Lawton J
J Am Acad Orthop Surg 2007 Jan;15(1):41-52. doi: 10.5435/00124635-200701000-00005. PMID: 17213381

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

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
Elçioglu N, Hall CM
Am J Med Genet 1998 Apr 13;76(5):410-4. PMID: 9556300
Whitley CB, Gorlin RJ
Am J Med Genet 1991 Sep 1;40(3):319-26. doi: 10.1002/ajmg.1320400315. PMID: 1951437
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
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
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

Recent systematic reviews

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
Tang JD, Grady AJ, Nickel CJ, Ryan LE, Malone A, Canvasser L, Boyev KP
Otolaryngol Head Neck Surg 2023 Mar;168(3):282-290. Epub 2023 Jan 27 doi: 10.1177/01945998221108313. PMID: 35763364
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
Murphy GRF, Logan MPO, Smith G, Sivakumar B, Smith P
J Bone Joint Surg Am 2017 Dec 20;99(24):2120-2126. doi: 10.2106/JBJS.17.00164. PMID: 29257019Free PMC Article
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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