PDF(Pubmed)
Abstract：
Spondyloepiphyseal dysplasia congenita (SEDC) is a rare autosomal dominant skeletal dysplasia resulting in impairment of type II collagen function. Phenotypically, this results in various skeletal, ligamentous, ocular, and otologic abnormalities. Platyspondyly, scoliosis, ligamental laxity, and odontoid hypoplasia are common, resulting in myelopathy in a high number of patients due to atlantoaxial instability. Despite patients undergoing surgical fixation, complication rates such as nonunion have been reported to be high. Here within, we present two patients treated with occipitocervical fusion for atlantoaxial instability and early symptoms of progressive myelopathy. We additionally provide a detailed review of the literature to inform practitioners of the spinal manifestations and clinical considerations in SEDC.
摘要：
先天性脊椎骨phy发育不良（SEDC）是一种罕见的常染色体显性遗传骨骼发育不良，导致II型胶原功能受损。表型，这导致了各种骨骼，韧带，眼,和耳科异常。鸭嘴兽,脊柱侧弯,韧带松弛，齿状突发育不全很常见，由于寰枢椎不稳定，导致大量患者发生脊髓病。尽管患者接受了手术固定，据报道,骨不连等并发症发生率较高.在这里，我们介绍了2例接受枕颈融合术治疗的寰枢椎不稳和进行性脊髓病的早期症状。我们还提供了详细的文献综述，以告知从业人员SEDC的脊柱表现和临床考虑。
