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截肢-截皮性发育不良-裂开综合征. 产前前性超声波诊断产前前性超声波诊断

Giuliana Orlandi¹, Raffaella Di Girolamo¹, Luigi Carbone²

¹Gynecology and Obstetrics Unit, Department of Public Health, School of Medicine, University of Naples Federico II, Naples, Italy.

Journal of clinical ultrasound : JCU

|September 4, 2023

概括

产前诊断Ectrodactyly-Ectodermal形-裂 (EEC) 综合征可以怀疑带有ectrodactyly,面部裂和尿路形,即使没有家族病史. 遗传咨询对于识别潜在的相关遗传综合征至关重要.

科学领域:

医学遗传学医学遗传学
产前诊断在产前诊断
临床遗传学临床遗传学

背景情况:

截 - - 截皮质发育不良 - - 裂 (EEC) 综合征的诊断传统上依赖于截,面部裂和家族病史.
识别额外的产前超声波标记对于早期诊断至关重要,特别是在零星的病例中.

研究的目的:

为了确定超声波特征暗示EEC综合征超出既定标准.
帮助在没有EEC综合征家族病史的情况下进行推定诊断.

主要方法:

分析了一份患有EEC综合征特征的胎儿病例报告.
对15例产前EEC综合征病例进行了系统的文献审查.

主要成果:

病例报告揭示了手和脚的"龙爪"变形.
文献审查在40%的病例中发现了与EEC相关的异常,在30%的病例中发现了生殖尿道异常.
只有33%的复查病例有经证实的EEC综合征家族病史.

结论:

截肢,面部裂和尿道形强烈暗示了EEC综合征,特别是有负面家族病史的人.
产前诊断应该考虑这些特征,以促使遗传咨询.
需要进一步评估以了解与其他遗传综合征的潜在关联.

关键词:

欧洲经济共同体 (EEC) 欧洲经济共同体 (EEC) 欧洲经济共同体发育不良症发育不良症皮肤外生态的皮肤外生态的这种状况叫做ectrodactyly.产前诊断在产前诊断.

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