Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome
Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome
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DOI：
10.1002/pd.5198
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发表时间：
2018-01-01
影响因子：
3
通讯作者：
Shannon, Patrick
中科院分区：
文献类型：
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作者：
Chong, Karen;Saleh, Maha;Shannon, Patrick
目的生殖膈疝（CDH）与Simpson-Golabi-Behmel综合征（SGBS）相关，但产前诊断的病例较少。本系列的目的是强调产前超声非分离性CDH与1型SGBS的关系，并强调基因检测、胎儿尸检和家族史在确认这一诊断中的重要性。方法回顾性分析某三级医疗中心收治的3例ⅰ型SGBS病例。对每个病例进行家族史、胎儿超声、尸检结果和GPC3基因检测。结果妊娠中期超声表现为CDH、脐膨出、颈褶增高、肾异常、唇腭裂。胎儿尸检证实了产前超声检查的结果，也显示了畸形的面部特征和肾和性腺组织学上的癌前病变。芯片和GPC3基因的DNA分析证实了每个病例的SGBS I型诊断。结论非分离性CDH男性胎儿可诊断为SGBS i型。胎儿解剖、家系分析、GPC3基因检测均可作为诊断的依据。卵泡和肾母细胞瘤的组织学结果表明，癌症易感性是在胎儿早期建立的。
ObjectiveCongenital diaphragmatic hernia (CDH) is associated with Simpson-Golabi-Behmel syndrome (SGBS), but few cases diagnosed prenatally have been reported. The aim of this series is to highlight the association of nonisolated CDH with SGBS type I on prenatal ultrasound and emphasize the importance of genetic testing, fetal autopsy, and family history in confirming this diagnosis.MethodRetrospective review of 3 cases of SGBS type I in a single tertiary care centre. Family history, fetal ultrasound, autopsy findings, and genetic testing for GPC3 was performed for each case.ResultsFetal ultrasound findings in the second trimester were CDH, omphalocele, increased nuchal fold, renal anomaly, and cleft lip and palate. Fetal autopsy confirmed the prenatal ultrasound findings and also showed dysmorphic facial features and premalignant lesions on renal and gonadal histology. Microarray and DNA analysis of the GPC3 gene confirmed the diagnosis of SGBS type I in each case.ConclusionNonisolated CDH in a male fetus suggests a diagnosis of SGBS type I. Fetal autopsy, pedigree analysis, and genetic testing for GPC3 are all essential to confirming the diagnosis. The histological findings of ovotestes and nephroblastomatosis indicate that cancer predisposition is established early in fetal life.