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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
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

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
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
Nakhal RS, Creighton SM
J Pediatr Adolesc Gynecol 2012 Dec;25(6):352-7. Epub 2011 Aug 27 doi: 10.1016/j.jpag.2011.06.003. PMID: 21872517
Islam MK
Indian J Pediatr 2002 Sep;69(9):819-20. doi: 10.1007/BF02723698. PMID: 12420917

Diagnosis

Swensen SJ, Otsuka NY
Foot Ankle Clin 2015 Dec;20(4):669-79. doi: 10.1016/j.fcl.2015.08.001. PMID: 26589085
Mollen BP, Heesterbeek PJ, de Vos MJ, ten Ham AM
J Pediatr Orthop B 2014 Jul;23(4):379-82. doi: 10.1097/BPB.0000000000000049. PMID: 24732097
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
Kim YH, Roh DH, Choi BY, Oh SH
Acta Otolaryngol 2005 Jul;125(7):797-800. doi: 10.1080/00016480510028474. PMID: 16012045
Elçioglu N, Hall CM
Am J Med Genet 1998 Apr 13;76(5):410-4. PMID: 9556300

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
Rubin MR
Bone 2019 Mar;120:548-555. Epub 2018 Nov 19 doi: 10.1016/j.bone.2018.11.012. PMID: 30465918
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
Oppenheim WL
Connect Tissue Res 1995;31(4):S59-63. doi: 10.3109/03008209509116836. PMID: 15612384

Prognosis

González-Del Angel A, Rius R, Alcántara-Ortigoza MA, Spector E, Del Castillo V, Mata-García LE
Am J Med Genet A 2018 May;176(5):1225-1231. doi: 10.1002/ajmg.a.38660. PMID: 29681095
Rough J, Hindin DI, Lee JC, Bradley JP
J Craniofac Surg 2016 Jan;27(1):e109-11. doi: 10.1097/SCS.0000000000002339. PMID: 26745197
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
Islam MK
Indian J Pediatr 2002 Sep;69(9):819-20. doi: 10.1007/BF02723698. PMID: 12420917
Elçioglu N, Hall CM
Am J Med Genet 1998 Apr 13;76(5):410-4. PMID: 9556300

Clinical prediction guides

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
Çetin T, Şıklar Z, Kocaay P, Berberoğlu M
J Clin Res Pediatr Endocrinol 2018 Nov 29;10(4):373-376. Epub 2018 May 9 doi: 10.4274/jcrpe.0043. PMID: 29739731Free PMC Article
Utreja A, Evans CA
Angle Orthod 2009 Mar;79(2):394-400. doi: 10.2319/112707-558.1. PMID: 19216608
Kim YH, Roh DH, Choi BY, Oh SH
Acta Otolaryngol 2005 Jul;125(7):797-800. doi: 10.1080/00016480510028474. PMID: 16012045

Recent systematic reviews

Tooze RS, Calpena E, Weber A, Wilson LC, Twigg SRF, Wilkie AOM
Genes (Basel) 2023 Feb 28;14(3) doi: 10.3390/genes14030615. PMID: 36980886Free PMC Article
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
Haybar H, Maleki Behzad M, Shahrabi S, Ansari N, Saki N
Lab Med 2020 Mar 10;51(2):122-142. doi: 10.1093/labmed/lmz049. PMID: 31340048
Kesireddy N, Kheireldin RK, Lu A, Cooper J, Liu J, Ebraheim NA
J Pediatr Orthop B 2018 Nov;27(6):541-550. doi: 10.1097/BPB.0000000000000524. PMID: 29878977

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