胎儿丙戊酸钠综合征的面部畸形和肢体异常。

IF 7.3 4区 医学 Q1 MEDICINE, GENERAL & INTERNAL QJM: An International Journal of Medicine Pub Date : 2025-01-01 DOI:10.1093/qjmed/hcae165
B Singanamalla, P K Gunasekaran, A G Saini
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引用次数: 0

摘要

对一名非血缘关系父母所生的新生儿进行了畸形特征评估。新生儿经阴道正常分娩足月出生。母亲患有癫痫病 12 年,从怀孕起就一直服用丙戊酸钠(700 毫克/天)。检查发现其面部畸形,包括三角形前额、稀疏的弧形眉、远视角、扁平鼻梁、细长的朱砂上缘、光滑的咽鼓管和低垂的耳朵。观察到的肢体畸形有蛛网状畸形、腕关节和肘关节挛缩、挛缩症、趾甲发育不良和脚趾重叠。其他畸形包括乳头间距过大和尿道下裂。头颅超声波检查显示双侧脉络丛囊肿,腹部超声波检查显示双侧轻度肾积水。二维超声心动图显示有一个小的动脉导管未闭(PDA)。考虑诊断为胎儿丙戊酸钠综合征(FVS),临床遗传学家复查排除了其他鉴别因素,包括胎儿酒精综合征和遗传病。该新生儿目前正在接受多学科随访。除了腕部和肘部挛缩外,该新生儿还具有文献中描述的 FVS 的常见特征。除畸形外,患神经认知发育迟缓和神经发育障碍的风险也很高。产后,这些婴儿需要多学科护理和神经发育随访。孕妇和育龄妇女使用丙戊酸钠治疗癫痫可能会受到限制,应优先选择安全性更好的其他 ASMs。无论丙戊酸钠的剂量如何,胎儿丙戊酸钠综合征都可能出现面部畸形和肢体异常。胎儿丙戊酸钠综合征可能会出现手腕和肘部挛缩。
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Facial dysmorphism and limb abnormalities of fetal valproate syndrome.
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来源期刊
CiteScore
6.90
自引率
5.30%
发文量
263
审稿时长
4-8 weeks
期刊介绍: QJM, a renowned and reputable general medical journal, has been a prominent source of knowledge in the field of internal medicine. With a steadfast commitment to advancing medical science and practice, it features a selection of rigorously reviewed articles. Released on a monthly basis, QJM encompasses a wide range of article types. These include original papers that contribute innovative research, editorials that offer expert opinions, and reviews that provide comprehensive analyses of specific topics. The journal also presents commentary papers aimed at initiating discussions on controversial subjects and allocates a dedicated section for reader correspondence. In summary, QJM's reputable standing stems from its enduring presence in the medical community, consistent publication schedule, and diverse range of content designed to inform and engage readers.
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