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

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


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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Cleidocranial Dysplasia* / complications
  • Cleidocranial Dysplasia* / diagnostic imaging
  • Cleidocranial Dysplasia* / genetics
  • Hand
  • Humans
  • Lower Extremity Deformities, Congenital*
  • Pseudarthrosis* / complications
  • Pseudarthrosis* / diagnostic imaging
  • Pseudarthrosis* / genetics
  • Tibia / diagnostic imaging
  • Tibia / surgery