关键词: Albers–Schonberg disease Atypical femur fracture Erlenmeyer flask deformity Hyperostosis Marble bone disease Osteopetrosis Osteosclerosis

来  源:   DOI:10.1016/j.ijscr.2024.109568   PDF(Pubmed)

Abstract:
BACKGROUND: Osteopetrosis is a rare hereditary disease that can be transmitted in an autosomal recessive or autosomal dominant.
METHODS: Here, we report a case of trochanteric fracture in an 18-year-old boy with an anatomical plate. At the last follow-up, 24 months after surgery, the fracture had healed well, and the patient was not restricted in his activities.
CONCLUSIONS: Osteopetrosis is a rare bone disease that is mainly caused by osteoclast dysfunction. It results from a remodelling defect that leads to hypermineralization of the skeleton, resulting in bone fragility. Both surgical and nonsurgical management have advantages and disadvantages. Thus, open reduction and anatomic plate fixation remain effective management modalities for trochanteric fractures in osteopetrosis patients.
CONCLUSIONS: For our patient and as described in the literature, the complication rate decreases as some principles are respected with better consolidation of the osteoporotic fracture.
摘要:
背景:石骨症是一种罕见的遗传性疾病,可以通过常染色体隐性遗传或常染色体显性遗传传播。
方法:这里,我们报告了一个18岁男孩的股骨转子骨折病例,该病例带有解剖钢板。在最后一次随访中,手术后24个月,骨折愈合良好,患者活动不受限制。
结论:石骨病是一种罕见的骨疾病,主要由破骨细胞功能障碍引起。它是由导致骨骼过度矿化的重塑缺陷引起的,导致骨骼脆弱。手术和非手术治疗各有优缺点。因此,切开复位和解剖钢板内固定仍然是治疗骨结石患者股骨转子骨折的有效方法。
结论:对于我们的患者,如文献中所述,随着骨质疏松性骨折的巩固,一些原则得到尊重,并发症发生率降低。
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