Shimizu Junya, Iba Kousuke, Emori Makoto, Sasaki Mikito, Yamashita Toshihiko
Department of Orthopaedic Surgery, Sapporo Medical University School of Medicine, Sapporo, Japan.
Case Rep Orthop. 2021 Mar 8;2021:2302879. doi: 10.1155/2021/2302879. eCollection 2021.
Cleidocranial dysplasia is characterized by hypoplasia of the clavicles, unerupted teeth, narrow pelvis, short stature, and craniofacial malformations. A cause of this skeletal dysplasia is heterozygous mutations of the runt-related transcription factor 2 gene (), a master regulator for bone and cartilage development. Chondrosarcoma is a primary malignant bone tumor that is usually treated by wide resection surgery. This report shows a case of a 25-year-old female patient with cleidocranial dysplasia who was affected with chondrosarcoma of the left humerus. We performed wide resection of the tumor and reconstruction of the large bone defect of the humerus using free vascularized fibular grafts. The patient preserved the hand function and activity of daily life as the same level as preoperative condition more than five years after the surgery.
锁骨颅骨发育不全的特征为锁骨发育不全、牙齿未萌出、骨盆狭窄、身材矮小以及颅面畸形。这种骨骼发育异常的一个病因是 runt 相关转录因子 2 基因()的杂合突变,该基因是骨骼和软骨发育的主要调节因子。软骨肉瘤是一种原发性恶性骨肿瘤,通常通过广泛切除手术进行治疗。本报告展示了一例 25 岁患有锁骨颅骨发育不全的女性患者,她罹患左肱骨软骨肉瘤。我们对肿瘤进行了广泛切除,并使用游离带血管腓骨移植术对肱骨的大骨缺损进行了重建。术后五年多,患者的手部功能和日常生活活动能力维持在与术前相同的水平。