Congenital Pseudarthrosis of the Tibia Associated With Cleidocranial Dysostosis: Case Report and Literature Review. Issue 4 (4th October 2021)

• Record Type: Journal Article
• Authors: McClure, Philip K.; Franzone, Jeanne M.; Herzenberg, John E.
• Is Part Of: JBJS case connector. Volume 11:Issue 4(2021)
• Publication Date: 2021-10-04
• Subjects: CPT -- CCD -- congenital pseudarthrosis of the tibia -- cleidocranial dysostosis -- CBFA1 -- RUNX; Orthopedic surgery -- Case studies -- Periodicals; Orthopedic surgery -- Periodicals; Orthopedics; Orthopedic Procedures; Orthopedic surgery; Periodicals; Electronic journals; Case studies; Periodicals; 616.7
• DOI: 10.2106/JBJS.CC.21.00451
• Languages: English
• ISSNs: 2160-3251

Abstract

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.