International Center for Limb Lengthening, Rubin Institute for Advanced Orthopedics, Sinai Hospital of Baltimore, Baltimore, Maryland.
Department of Orthopaedic Surgery, AI Dupont Hospital for Children, Wilmington, Delaware.
JBJS Case Connect. 2021 Nov 4;11(4):01709767-202112000-00042. doi: e21.00451.
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.
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.
我们描述了一例单独的两种罕见疾病共存的病例，表现为先天性胫骨假关节（CPT）合并颅锁骨发育不全，并对文献进行了回顾，包括唯一先前记录的合并存在。
自上次报告这种合并症以来，CPT 的理解、治疗和手术方案发生了很大变化。更新包括骨融合、骨膜移植、骨形态发生蛋白和双膦酸盐的使用。我们的病例与之前的病例在相关疾病和家族史方面有所不同。CBFA1 和 RUNX2 基因之间的关系可能是关键，但需要进一步研究。
