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Congenital pseudoarthrosis of the tibia

MedGen UID:
539398
Concept ID:
C0265661
Disease or Syndrome
Synonyms: Congenital pseudarthrosis of the tibia; congenital pseudarthrosis of the tibia; Congenital Pseudarthrosis of Tibia; congenital pseudarthrosis of tibia; congenital pseudoarthrosis of the tibia; Congenital pseudoarthrosis of tibia
SNOMED CT: Congenital pseudoarthrosis of tibia (55379003)
 
Monarch Initiative: MONDO:0017462
Orphanet: ORPHA295018

Definition

A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilateral, and more than half of the cases are associated with neurofibromatosis type 1. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital pseudoarthrosis of the tibia
Follow this link to review classifications for Congenital pseudoarthrosis of the tibia in Orphanet.

Professional guidelines

PubMed

Memeo A, Verdoni F, Minoli CF, Voto A, D'Amato RD, Formiconi F, Priano D, Montanari L, Panuccio E
J Biol Regul Homeost Agents 2020 Jul-Aug;34(4 Suppl. 3):431-440. Congress of the Italian Orthopaedic Research Society. PMID: 33261306
Iamaguchi RB, Fucs PM, Carlos da Costa A, Chakkour I, Gomes MD
J Pediatr Orthop B 2011 Sep;20(5):323-9. doi: 10.1097/BPB.0b013e328347a361. PMID: 21691227
Kort JS, Schink MM, Mitchell SN, Bassett CA
Clin Orthop Relat Res 1982 May;(165):124-37. PMID: 7075050

Recent clinical studies

Etiology

Enemudo RE, Edomwonyi EO, Obumse AT, Uyilawa O
Niger J Clin Pract 2023 Mar;26(3):352-357. doi: 10.4103/njcp.njcp_608_22. PMID: 37056112
Xu S, Liu Y, Zhu G, Liu K, Tang J, Wu J, Yan A, Jiang F, Mo S, Mei H
J Orthop Surg Res 2022 Mar 5;17(1):142. doi: 10.1186/s13018-022-03021-8. PMID: 35248095Free PMC Article
Memeo A, Verdoni F, Minoli CF, Voto A, D'Amato RD, Formiconi F, Priano D, Montanari L, Panuccio E
J Biol Regul Homeost Agents 2020 Jul-Aug;34(4 Suppl. 3):431-440. Congress of the Italian Orthopaedic Research Society. PMID: 33261306
Agashe MV, Song SH, Refai MA, Park KW, Song HR
Acta Orthop 2012 Oct;83(5):515-22. Epub 2012 Oct 8 doi: 10.3109/17453674.2012.736170. PMID: 23043268Free PMC Article
Boero S, Catagni M, Donzelli O, Facchini R, Frediani PV
J Pediatr Orthop 1997 Sep-Oct;17(5):675-84. doi: 10.1097/00004694-199709000-00019. PMID: 9592010

Diagnosis

Mongon MLD, Ribera FC, de Souza AMA, Sposito AL, Belangero WD, Livani B
J Pediatr Orthop 2017 Jun;37(4):e271-e276. doi: 10.1097/BPO.0000000000000942. PMID: 28195886
Masquijo JJ, Firth GB, Sepúlveda D
J Pediatr Orthop B 2017 Sep;26(5):449-453. doi: 10.1097/BPB.0000000000000367. PMID: 27398644
Diaz-Solano D, Wittig O, Mota JD, Cardier JE
Anat Rec (Hoboken) 2015 Oct;298(10):1804-14. Epub 2015 Jul 30 doi: 10.1002/ar.23198. PMID: 26194170
Westberry DE, Davids JR, Pugh LI
J Pediatr Orthop 2014 Jan;34(1):86-91. doi: 10.1097/BPO.0b013e3182a007a0. PMID: 23872807
Teo HE, Peh WC, Akhilesh M, Tan SB, Ishida T
Skeletal Radiol 2007 Jun;36 Suppl 1:S7-14. Epub 2006 Aug 30 doi: 10.1007/s00256-006-0177-2. PMID: 16944141

Therapy

Masquijo JJ, Firth GB, Sepúlveda D
J Pediatr Orthop B 2017 Sep;26(5):449-453. doi: 10.1097/BPB.0000000000000367. PMID: 27398644
Das SP, Ganesh S, Pradhan S, Singh D, Mohanty RN
Int Orthop 2014 Sep;38(9):1987-92. Epub 2014 May 15 doi: 10.1007/s00264-014-2361-7. PMID: 24827969
Westberry DE, Davids JR, Pugh LI
J Pediatr Orthop 2014 Jan;34(1):86-91. doi: 10.1097/BPO.0b013e3182a007a0. PMID: 23872807
Inan M, El Rassi G, Riddle EC, Kumar SJ
J Pediatr Orthop 2006 May-Jun;26(3):393-9. doi: 10.1097/01.bpo.0000217716.64986.f0. PMID: 16670555
Kort JS, Schink MM, Mitchell SN, Bassett CA
Clin Orthop Relat Res 1982 May;(165):124-37. PMID: 7075050

Prognosis

Das SP, Ganesh S, Pradhan S, Singh D, Mohanty RN
Int Orthop 2014 Sep;38(9):1987-92. Epub 2014 May 15 doi: 10.1007/s00264-014-2361-7. PMID: 24827969
Westberry DE, Davids JR, Pugh LI
J Pediatr Orthop 2014 Jan;34(1):86-91. doi: 10.1097/BPO.0b013e3182a007a0. PMID: 23872807
Iamaguchi RB, Fucs PM, Carlos da Costa A, Chakkour I, Gomes MD
J Pediatr Orthop B 2011 Sep;20(5):323-9. doi: 10.1097/BPB.0b013e328347a361. PMID: 21691227
Paley D, Catagni M, Argnani F, Prevot J, Bell D, Armstrong P
Clin Orthop Relat Res 1992 Jul;(280):81-93. PMID: 1611768
Kort JS, Schink MM, Mitchell SN, Bassett CA
Clin Orthop Relat Res 1982 May;(165):124-37. PMID: 7075050

Clinical prediction guides

Khmyzov SO, Katsalap YS, Karpinsky MJ, Karpinska O
Wiad Lek 2022;75(9 pt 1):2112-2120. doi: 10.36740/WLek202209112. PMID: 36256938
Xu S, Liu Y, Zhu G, Liu K, Tang J, Wu J, Yan A, Jiang F, Mo S, Mei H
J Orthop Surg Res 2022 Mar 5;17(1):142. doi: 10.1186/s13018-022-03021-8. PMID: 35248095Free PMC Article
Dilogo IH, Mujadid F, Nurhayati RW, Kurniawan A
J Orthop Surg Res 2018 Oct 23;13(1):266. doi: 10.1186/s13018-018-0977-9. PMID: 30352605Free PMC Article
Agashe MV, Song SH, Refai MA, Park KW, Song HR
Acta Orthop 2012 Oct;83(5):515-22. Epub 2012 Oct 8 doi: 10.3109/17453674.2012.736170. PMID: 23043268Free PMC Article
Iamaguchi RB, Fucs PM, Carlos da Costa A, Chakkour I, Gomes MD
J Pediatr Orthop B 2011 Sep;20(5):323-9. doi: 10.1097/BPB.0b013e328347a361. PMID: 21691227

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