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首页> 外文期刊>Journal of Clinical Ultrasound: JCU >Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome
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Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome

机译：KAGAMI-OGATA综合症：对Beckwith-Wiedemann综合征的一个重要鉴别诊断

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摘要

Abstract We report the case of a fetus with sonographic characteristics of Beckwith‐Wiedemann syndrome (BWS). A 30‐year‐old gravida 2 para 1 was referred to our fetal medicine unit with an omphalocele. Fetal macrosomia, organomegaly, and polyhydramnios but no macroglossia were detected and BWS was suspected. Genetic testing for BWS did not confirm the suspected diagnosis as the karyotype was normal. Symptomatic polyhydramnios led to repeated amnioreductions. At 35?+?5?weeks of gestation, a female neonate of 3660?g was delivered with APGAR scores of 6/7/8, after 1/5/10 min, respectively. The abnormal shape of the thorax, facial dysmorphism, need for ventilation, and generalized muscular hypotonia led to the suspicion of Kagami‐Ogata syndrome (KOS), which was confirmed by genetic testing. KOS in our patient was caused by a large deletion in the MEG3‐region on chromosome 14q32 affecting the maternal allele. In this report, we highlight the notion that when sonographic signs suggestive of BWS such as macrosomia, polyhydramnios, and omphalocele are present and genetic testing does not confirm the suspected diagnosis, KOS should be tested for.
机译：摘要我们报告了胎儿的胎儿，具有贝克维斯 - Wiedemann综合征（BWS）的超声结构。一个30岁的胎儿2 para 1用omphalocele提交给我们的胎儿药物。胎儿麦科瘤，有机大大和多络合物，但没有检测到宏观阶，并怀疑BWS。 BWS的遗传检测没有确认患有核型正常的疑似诊断。症状多络合物导致重复的肉芽肿。在35岁？+ 5？周的妊娠周，3660？g的雌性新生儿分别在1/5/10分钟后，在6/7/8的Apgar评分中递送。胸部的异常形状，面部疑难垂，需要通风，以及广义肌肉肺炎导致了遗传检测确认的KAGAMI-OGATA综合征（KOS）。我们患者的KOS是由MEG3区域的大缺失引起的，在影响母体等位基因的染色体14Q32上。在本报告中，我们突出了观点，当存在麦克风，多络合物和omphalocele等BWS的超声波迹象，存在并且遗传检测并未确认疑似诊断，应对KOS进行测试。

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