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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

Effectiveness of bone marrow aspirate concentrate (BMAC) as adjuvant therapy in the surgical treatment of congenital pseudoarthrosis of the tibia: a retrospective comparative study.
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
Congenital pseudoarthrosis of the tibia – results of treatment by free fibular transfer and associated procedures – preliminary study.
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
Congenital pseudoarthrosis of the tibia: treatment with pulsing electromagnetic fields.
Kort JS, Schink MM, Mitchell SN, Bassett CA
Clin Orthop Relat Res 1982 May;(165):124-37. PMID: 7075050

Recent clinical studies

Etiology

Management of congenital pseudoarthrosis using Ilizarov Device-Delsuth, oghara experience.
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
Evaluation of the efficacy of ipsilateral fibular transfer for reconstruction of large tibial defects in children: a retrospective study.
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
Failure of tension band plating: a case series.
Masquijo JJ, Firth GB, Sepúlveda D
J Pediatr Orthop B 2017 Sep;26(5):449-453. doi: 10.1097/BPB.0000000000000367. PMID: 27398644
Congenital pseudarthrosis of the tibia treated with a combination of Ilizarov's technique and intramedullary rodding.
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
Treatment of congenital pseudoarthrosis of the tibia using the Ilizarov technique.
Paley D, Catagni M, Argnani F, Prevot J, Bell D, Armstrong P
Clin Orthop Relat Res 1992 Jul;(280):81-93. PMID: 1611768

Diagnosis

Osteogenic organoid for bone regeneration: Healing of bone defect in congenital pseudoarthrosis of the tibia.
Cardier JE, Diaz-Solano D, Wittig O, Sierra G, Pulido J, Moreno R, Fuentes S, Leal F
Int J Artif Organs 2024 Feb;47(2):107-114. Epub 2024 Jan 5 doi: 10.1177/03913988231220844. PMID: 38182554
Pedicled Sensate Composite Calcaneal Flap in Children With Congenital Tibial Pseudoarthrosis.
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
Failure of tension band plating: a case series.
Masquijo JJ, Firth GB, Sepúlveda D
J Pediatr Orthop B 2017 Sep;26(5):449-453. doi: 10.1097/BPB.0000000000000367. PMID: 27398644
The Boyd amputation in children: indications and outcomes.
Westberry DE, Davids JR, Pugh LI
J Pediatr Orthop 2014 Jan;34(1):86-91. doi: 10.1097/BPO.0b013e3182a007a0. PMID: 23872807
Congenital pseudoarthrosis of the tibia treated with low-intensity pulsed ultrasound stimulation (LIPUS).
Okada K, Miyakoshi N, Takahashi S, Ishigaki S, Nishida J, Itoi E
Ultrasound Med Biol 2003 Jul;29(7):1061-4. doi: 10.1016/s0301-5629(03)00906-2. PMID: 12878253

Therapy

Failure of tension band plating: a case series.
Masquijo JJ, Firth GB, Sepúlveda D
J Pediatr Orthop B 2017 Sep;26(5):449-453. doi: 10.1097/BPB.0000000000000367. PMID: 27398644
Effectiveness of recombinant human bone morphogenetic protein-7 in the management of congenital pseudoarthrosis of the tibia: a randomised controlled trial.
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
The Boyd amputation in children: indications and outcomes.
Westberry DE, Davids JR, Pugh LI
J Pediatr Orthop 2014 Jan;34(1):86-91. doi: 10.1097/BPO.0b013e3182a007a0. PMID: 23872807
Congenital pseudoarthrosis of the tibia: healing by lengthening over a rod without compression of the nonunion. A preliminary report.
Muhammad Abdul Jamil MK, Abdul Rashid AH, Ibrahim S
J Pediatr Orthop B 2013 May;22(3):207-12. doi: 10.1097/BPB.0b013e32834ecc01. PMID: 22182834
Congenital pseudoarthrosis of the tibia: treatment with pulsing electromagnetic fields.
Kort JS, Schink MM, Mitchell SN, Bassett CA
Clin Orthop Relat Res 1982 May;(165):124-37. PMID: 7075050

Prognosis

Effectiveness of recombinant human bone morphogenetic protein-7 in the management of congenital pseudoarthrosis of the tibia: a randomised controlled trial.
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
The Boyd amputation in children: indications and outcomes.
Westberry DE, Davids JR, Pugh LI
J Pediatr Orthop 2014 Jan;34(1):86-91. doi: 10.1097/BPO.0b013e3182a007a0. PMID: 23872807
Congenital pseudoarthrosis of the tibia – results of treatment by free fibular transfer and associated procedures – preliminary study.
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
Congenital tibial dysplasia (congenital pseudoarthrosis of the tibia): an atypical variation.
Lehman WB, Abdelgawad AA, Sala DA
J Pediatr Orthop B 2009 Sep;18(5):211-3. doi: 10.1097/BPB.0b013e32832fbec6. PMID: 19625879
Treatment of congenital pseudoarthrosis of the tibia using the Ilizarov technique.
Paley D, Catagni M, Argnani F, Prevot J, Bell D, Armstrong P
Clin Orthop Relat Res 1992 Jul;(280):81-93. PMID: 1611768

Clinical prediction guides

EXPERIMENTAL STUDY OF BONE DENSITY IN PATIENTS WITH CONGENITAL PSEUDOARTHROSIS OF THE TIBIA BEFORE AND AFTER SURGERY.
Khmyzov SO, Katsalap YS, Karpinsky MJ, Karpinska O
Wiad Lek 2022;75(9 pt 1):2112-2120. doi: 10.36740/WLek202209112. PMID: 36256938
Evaluation of the efficacy of ipsilateral fibular transfer for reconstruction of large tibial defects in children: a retrospective study.
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
Failure of tension band plating: a case series.
Masquijo JJ, Firth GB, Sepúlveda D
J Pediatr Orthop B 2017 Sep;26(5):449-453. doi: 10.1097/BPB.0000000000000367. PMID: 27398644
Congenital pseudarthrosis of the tibia treated with a combination of Ilizarov's technique and intramedullary rodding.
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
Congenital pseudoarthrosis of the tibia – results of treatment by free fibular transfer and associated procedures – preliminary study.
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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