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Review
. 2021 Nov 4;11(4).
doi: 10.2106/JBJS.CC.21.00451.

Congenital Pseudarthrosis of the Tibia Associated With Cleidocranial Dysostosis: Case Report and Literature Review

Philip K McClure  1 , Jeanne M Franzone  2 , John E Herzenberg  1
Affiliations
Review

Congenital Pseudarthrosis of the Tibia Associated With Cleidocranial Dysostosis: Case Report and Literature Review

Philip K McClure et al. JBJS Case Connect. .

Abstract

Case: We describe a case of 2 individually rare diseases existing comorbidly in the form of congenital pseudarthrosis of the tibia (CPT) coincident with cleidocranial dysostosis and provide a review of the literature, including the sole preexisting documented coincidence.

Conclusion: Understanding, treatment, and surgical protocol of CPT have changed considerably since this comorbidity was last reported. Updates include synostosis, periosteal grafting, the use of bone morphogenetic protein, and bisphosphonates. Our case varies from the previous in associated disorder and family history. The relationship between CBFA1 and RUNX2 genes may hold the key, but further study is needed.

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Conflict of interest statement

Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/B712).

References

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    1. National Organization for Rare Disorders. Cleidocranial dysplasia. Available at: https://rarediseases.org/rare-diseases/cleidocranial-dysplasia/ . Accessed April 16, 2017.
    1. McGinnis MR, Mullen JO. Congenital pseudarthrosis of the tibia associated with cleidocranial dysostosis and osteogenesis imperfecta. A case report. Clin Orthop Relat Res. 1987;220:228-32.
    1. Choi IH, Lee SJ, Moon HJ, Cho T-J, Yoo WJ, Chung CY, Park MS. “4-in-1 osteosynthesis” for atrophic-type congenital pseudarthrosis of the tibia. J Pediatr Orthop. 2011;31(6):697-704.
    1. Thabet AM, Paley D, Kocaoglu M, Eralp L, Herzenberg JE, Ergin ON. Periosteal grafting for congenital pseudarthrosis of the tibia: a preliminary report. Clin Orthop Relat Res. 2008;466(12):2981-94.

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