胎盘间充质发育不良的产前诊断及其与肝间充质错构瘤的关系:1例报告。

Q4 Medicine
Haley S Jerman, Rachel L Rodel
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引用次数: 0

摘要

胎盘间充质发育不良(PMD)和肝间充质错构瘤是与贝克威氏综合征(BWS)相关的罕见疾病。我们提出一个22岁的病例诊断为PMD在妊娠24周谁需要紧急分娩继发胎儿窘迫和先兆子痫在妊娠30周。新生儿在分娩后被诊断为肝间质错构瘤。虽然基因检测结果为阴性,但由于持续低血糖发作、左下肢增生、脐疝、肾切除术、双耳皱褶和眶周皱褶,临床诊断为BWS。本病例表明PMD可能是BWS的唯一产前指标。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Prenatal Diagnosis of Placental Mesenchymal Dysplasia and Its Association with Hepatic Mesenchymal Hamartoma in Beckwith-Wiedemann Syndrome: A Case Report.

Placental mesenchymal dysplasia (PMD) and hepatic mesenchymal hamartomas are rare diseases associated with Beckwith-Wiedemann Syndrome (BWS). We present the case of a 22-year-old diagnosed with PMD at 24 weeks gestation who required emergent delivery secondary to fetal distress and preeclampsia at 30 weeks' gestation. The neonate was diagnosed with a hepatic mesenchymal hamartoma following delivery. While genetic testing returned negative, a clinical diagnosis was made for BWS due to persistent hypoglycemic episodes, left lower extremity hyperplasia, an umbilical hernia, nephromegaly, bilateral ear creases, and periorbital creases. This case demonstrates that PMD may be the only prenatal indicator of BWS.

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CiteScore
0.50
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