脊柱侧凸
病因学
特发性脊柱侧凸
医学
外显率
孟德尔遗传
畸形
病理
生物信息学
神经科学
生物
遗传学
外科
基因
表型
作者
Thomas G. Lowe,Michael Edgar,Joseph Y. Margulies,Nancy H. Miller,V.J. Raso,Kent A. Reinker,Charles‐Hilaire Rivard
标识
DOI:10.2106/00004623-200008000-00014
摘要
Current population studies characterize idiopathic scoliosis as a single-gene disorder that follows the patterns of mendelian genetics, including variable penetrance and heterogeneity. The role of melatonin and calmodulin in the development of idiopathic scoliosis is likely secondary, with indirect effects on growth mechanisms. Reported abnormalities of connective tissue, skeletal muscle, platelets, the spinal column, and the rib cage are all thought to be secondary to the deformity itself. Although no consistent neurological abnormalities have been identified in patients with idiopathic scoliosis, it is possible that a defect in processing by the central nervous system affects the growing spine. The true etiology of idiopathic scoliosis remains unknown; however, it appears to be multifactorial.
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