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在无眼膜症和微眼膜症的相关异常
Claude Stoll1, Beatrice Dott1, Yves Alembik1
1Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France.
European journal of medical genetics
|December 18, 2023
概括
患有眼和微眼的婴儿通常有其他先天性异常. 这项研究发现,88.8%的受影响婴儿患有相关疾病,强调需要进行彻底调查.
科学领域:
- 医学遗传学 医学遗传学
- 眼科医生 眼科 眼科
- 发展生物学 发展生物学
背景情况:
- 眼和微眼 (an/microphthalmia) 是一种罕见的先天性疾病.
- 相关的先天性异常常常在患有/微的婴儿中观察到.
- 关于这些异常的频率和类型的现有数据是可变的.
研究的目的:
- 为了确定患有/微的婴儿中相关异常的患病率和类型.
- 在相当长的时间内,在定义的群体内分析这些异常.
主要方法:
- 基于人口的回顾性研究.
- 包括1979年至2007年在法国东北部出生的所有患有无/微眼症的婴儿.
- 将相关异常分为可识别 (染色体和非染色体) 和不可识别 (多重先天性异常 - MCA) 的类别.
主要成果:
- 无/微眼症的发病率为每1万例出生的2.53例.
- 88.8%的婴儿患有无/微眼症,有相关的异常.
- 三胞胎症13和18是常见的染色体异常;羊水带,眼耳脊椎谱,CHARGE综合征和VACTERL关联是常见的非染色体疾病. 肌肉骨,心血管和中枢神经系统异常在MCA病例中很常见.
结论:
- 相关异常的高频率在一个/microphthalmia强调了全面评估的必要性.
- 建议对肌肉骨,心脏和中枢神经系统异常进行例行查.
- 对受影响的婴儿来说,基因咨询推是有必要的.
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