产前单侧上肢增色性脑膜发育不良症
Shruti Thakur1, Charu Smita Thakur2, Anupam Jhobta2
1Department of Radiodiagnosis, Indira Gandhi Medical College and Hospital (IGMC), Shimla, Himachal Pradesh, 171001, India. tshruti878@yahoo.in.
Journal of ultrasound
|September 17, 2024
概括
状体性发育不良症 (AMD) 是一种骨疾病,导致肢体不成比例缩短. 这个案例突出了一个罕见的单边上肢AMD在产前被诊断出来的例子,为遗传咨询提供了洞察力.
科学领域:
- 医学遗传学 医学遗传学
- 产前诊断 在产前诊断
- 骨发育不良症 骨发育不良症
背景情况:
- 宏粒体性发育不良症 (AMD) 包含一组骨疾病,其特征是肢体不成比例缩短.
- 特定骨异常的产前诊断具有挑战性,但由于对怀孕和复发风险的影响至关重要.
- 准确的分类需要综合放射学,病理学,遗传学和分子研究.
研究的目的:
- 报告一例罕见的胎儿单侧上肢形体质性失育症,该病例在第二个月初的产前超声波检查中诊断出.
- 强调详细的胎儿异常扫描对于识别罕见的骨发育障碍的重要性.
- 为了解AMD表现及其对遗传咨询的影响做出贡献.
主要方法:
- 产前超声检查在怀孕第二季度早期.
- 详细的超声波异常扫描以评估胎儿骨发育.
- 对类似报告的病例进行医学文献的审查.
主要成果:
- 在初级妊娠中诊断胎儿单侧上肢AMD.
- 左半径和骨显著缩短 (在第五百分之一以下) 和左手的低成形.
- 胎儿异常扫描的其余部分正常,表明这是一个孤立的发现.
结论:
- 这种病例代表了一种潜在的新型表现的状体质性发育不良症,仅限于单侧上肢,并在产前被诊断出来.
- 对胎儿骨异常的早期和准确诊断对于适当的管理和遗传咨询至关重要.
- 需要进一步的研究来了解这种孤立表现的遗传基础和长期结果.
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