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新生儿致命的多发性pterygium综合征,一个案例报告
Parvaneh Sadeghimoghadam1, Saeedeh Shirdel2, Sedigheh Hantoushzadeh2
1Department of Pediatrics, Vali-E-Asr Hospital, Imam Complex Tehran University of Medical Sciences Tehran Iran.
Clinical case reports
|July 14, 2023
概括
致死多重综合征 (LMPS) 是一种罕见的致命遗传疾病,其特征是胎儿生长缺陷和多种异常. 遗传咨询和检测可以帮助预防未来怀孕中复发.
科学领域:
- 医学遗传学 医学遗传学
- 发展生物学 发展生物学
- 临床医学 临床医学
背景情况:
- 致死性多重综合征 (LMPS) 是一种极其罕见的先天性遗传疾病.
- 它的特点是胎儿生长缺陷,面异常,关节收缩和皮肤 (pterygia).
- 通常,LMPS在子宫内或出生后不久致死.
研究的目的:
- 报告一个致命的多重体综合征病例.
- 详细说明在本案中观察到的特定多重异常.
- 强调LMPS遗传检测和咨询的重要性.
主要方法:
- 病例报告,详细说明临床发现.
- 胎儿异常的描述,包括pterygia,arthrogryposis和面异常.
- 讨论遗传基础和对复发的影响.
主要成果:
- 该病例呈现出广泛的体 (下,前,沟),严重的关节,口腔裂,微静脉,子,以及其他显著的异形特征.
- 描述的异常与已知的致命多重症候群的已知表现一致.
- 这种情况在怀孕的第二或第三个三个月证明是致命的.
结论:
- 致死性多发性pterygium综合征是一种严重的,均致命的先天性疾病.
- 通过基因检测和咨询进行早期诊断对于受影响的家庭至关重要.
- 了解遗传基础有助于防止后续怀孕中复发.
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