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Tibia vara

MedGen UID:
104499
Concept ID:
C0175756
Disease or Syndrome
Synonyms: Blount disease; Blount's disease
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0017194
Orphanet: ORPHA2768

Definition

Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTibia vara
Follow this link to review classifications for Tibia vara in Orphanet.

Professional guidelines

PubMed

Alsancak S, Guner S, Kınık H
Sci Rep 2020 Feb 21;10(1):3187. doi: 10.1038/s41598-020-59599-8. PMID: 32081856Free PMC Article
Smith SL, Beckish ML, Winters SC, Pugh LI, Bray EW
J Pediatr Orthop 2000 Sep-Oct;20(5):606-10. doi: 10.1097/00004694-200009000-00011. PMID: 11008739
Raney EM, Topoleski TA, Yaghoubian R, Guidera KJ, Marshall JG
J Pediatr Orthop 1998 Sep-Oct;18(5):670-4. doi: 10.1097/00004694-199809000-00023. PMID: 9746423

Recent clinical studies

Etiology

Janoyer M
Orthop Traumatol Surg Res 2019 Feb;105(1S):S111-S121. Epub 2018 Feb 23 doi: 10.1016/j.otsr.2018.01.009. PMID: 29481866
Gettys FK, Jackson JB, Frick SL
Orthop Clin North Am 2011 Jan;42(1):95-105, vii. doi: 10.1016/j.ocl.2010.08.005. PMID: 21095438
Ogbemudia AO, Bafor A, Ogbemudia PE
Arch Orthop Trauma Surg 2011 Apr;131(4):437-42. Epub 2010 Jun 17 doi: 10.1007/s00402-010-1139-7. PMID: 20556615
Loder RT, Schaffer JJ, Bardenstein MB
J Pediatr Orthop 1991 Mar-Apr;11(2):162-7. doi: 10.1097/01241398-199103000-00004. PMID: 2010513
Loder RT, Johnston CE 2nd
J Pediatr Orthop 1987 Nov-Dec;7(6):639-46. PMID: 3429646

Diagnosis

Janoyer M
Orthop Traumatol Surg Res 2019 Feb;105(1S):S111-S121. Epub 2018 Feb 23 doi: 10.1016/j.otsr.2018.01.009. PMID: 29481866
Sabharwal S
Orthop Clin North Am 2015 Jan;46(1):37-47. Epub 2014 Oct 12 doi: 10.1016/j.ocl.2014.09.002. PMID: 25435033
Greene WB
Instr Course Lect 1993;42:525-38. PMID: 8463701
Greene WB
J Bone Joint Surg Am 1993 Jan;75(1):130-43. doi: 10.2106/00004623-199301000-00017. PMID: 8419383
Johnston CE 2nd
Clin Orthop Relat Res 1990 Jun;(255):13-23. PMID: 2347147

Therapy

Shim JW, Lee SS, Ko KR
Clin Orthop Surg 2024 Dec;16(6):1010-1018. Epub 2024 Oct 10 doi: 10.4055/cios24160. PMID: 39618518Free PMC Article
Rajkumar N, Soundarrajan D, Dhanasekararaja P, Rajasekaran S
J Arthroplasty 2021 Apr;36(4):1284-1294. Epub 2020 Oct 31 doi: 10.1016/j.arth.2020.10.051. PMID: 33229070
Horn A, Boskovic V
Int Orthop 2021 May;45(5):1233-1238. Epub 2020 Sep 16 doi: 10.1007/s00264-020-04808-2. PMID: 32936339
Alsancak S, Guner S, Kinik H
Prosthet Orthot Int 2013 Oct;37(5):375-83. Epub 2013 Jan 23 doi: 10.1177/0309364612471369. PMID: 23344116
Mueller KL, Farley FA
Orthopedics 2003 May;26(5):513-4. doi: 10.3928/0147-7447-20030501-19. PMID: 12755217

Prognosis

Janoyer M
Orthop Traumatol Surg Res 2019 Feb;105(1S):S111-S121. Epub 2018 Feb 23 doi: 10.1016/j.otsr.2018.01.009. PMID: 29481866
Gettys FK, Jackson JB, Frick SL
Orthop Clin North Am 2011 Jan;42(1):95-105, vii. doi: 10.1016/j.ocl.2010.08.005. PMID: 21095438
Raney EM, Topoleski TA, Yaghoubian R, Guidera KJ, Marshall JG
J Pediatr Orthop 1998 Sep-Oct;18(5):670-4. doi: 10.1097/00004694-199809000-00023. PMID: 9746423
Johnston CE 2nd
Clin Orthop Relat Res 1990 Jun;(255):13-23. PMID: 2347147
Loder RT, Johnston CE 2nd
J Pediatr Orthop 1987 Nov-Dec;7(6):639-46. PMID: 3429646

Clinical prediction guides

Walker JL, Dueber DM, Scott AC, Stephenson LP, Lerman JA, Nossov SB, Franklin CC, Powell KP, Westberry DE, Ackman JD
J Pediatr Orthop 2023 May-Jun 01;43(5):303-310. Epub 2023 Feb 16 doi: 10.1097/BPO.0000000000002358. PMID: 36791409
Janoyer M
Orthop Traumatol Surg Res 2019 Feb;105(1S):S111-S121. Epub 2018 Feb 23 doi: 10.1016/j.otsr.2018.01.009. PMID: 29481866
Taussig MD, Powell KP, Cole HA, Nwosu SK, Hunley T, Romine SE, Iwinski H Jr, Talwalkar V, Warhoover T, Lovejoy SA, Mencio GA, Martus JE, Walker J, Milbrandt T, Schoenecker JG
J Pediatr Orthop 2016 Dec;36(8):877-883. doi: 10.1097/BPO.0000000000000569. PMID: 26090984
Laville JM, Chau E, Willemen L, Kohler R, Garin C
J Pediatr Orthop B 1999 Jan;8(1):19-25. PMID: 10709592
Johnston CE 2nd
Clin Orthop Relat Res 1990 Jun;(255):13-23. PMID: 2347147

Recent systematic reviews

Jain MJ, Inneh IA, Zhu H, Phillips WA
J Pediatr Orthop 2020 Feb;40(2):e138-e143. doi: 10.1097/BPO.0000000000001393. PMID: 31022017
Gilbody J, Thomas G, Ho K
J Pediatr Orthop 2009 Mar;29(2):110-4. doi: 10.1097/BPO.0b013e31819849aa. PMID: 19352233

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