Cho Woojin, Shepard Nicholas, Arlet Vincent
Department of Orthopaedic Surgery, Albert Einstein College of Medicine/Montefiore Medical Center, 3400 Bainbridge Ave 6th Floor, Bronx, NY, 10461, USA.
NYU Langone Orthopedic Hospital, New York, NY, USA.
Eur Spine J. 2018 Jul;27(Suppl 3):533-537. doi: 10.1007/s00586-018-5604-2. Epub 2018 Apr 18.
To describe the presence of congenital scoliosis in a genetically identical population as it relates to the possible genetic vs. environmental etiologic factors.
The authors describe three cases of congenital scoliosis in monozygotic twins. The first pair includes two 4-year-old girls presenting with mirror curves, one of whom had an associated stage I Chiari malformation. The second pair is a 4-year-old girl who presented with thoracic scoliosis, a T10-11 hemivertebra, and multilevel failure of segmentation in the lumbar spine whose identical sibling is unaffected. The third pair includes a 4-month-old boy with T9 and L4 hemivertebra whose brother is also unaffected.
All three cases were managed conservatively with observation and remained asymptomatic throughout the duration of follow-up. There were no associations with extraspinal deformities, although one patient presented with concomitant type I Chiari malformation.
The variable presentation of congenital scoliosis in a genetically unique population serves as testament to the complexity associated with its development, likely involving both environmental factors and a genetic predisposition.
描述在基因相同的人群中先天性脊柱侧凸的存在情况,及其与可能的遗传和环境病因因素的关系。
作者描述了三例单卵双胞胎先天性脊柱侧凸病例。第一对是两个4岁女孩,呈现镜像曲线,其中一人伴有I期Chiari畸形。第二对是一个4岁女孩,患有胸段脊柱侧凸、T10 - 11半椎体以及腰椎多节段分节不全,其同卵双胞胎未受影响。第三对包括一个4个月大的男孩,患有T9和L4半椎体,其兄弟也未受影响。
所有三例均采用观察保守治疗,在整个随访期间均无症状。尽管有一名患者伴有I型Chiari畸形,但均与脊柱外畸形无关。
在基因独特的人群中先天性脊柱侧凸的表现各异,证明了其发展过程的复杂性,可能涉及环境因素和遗传易感性。