UNASSIGNED: A 33-week gestational age female had an omphalocele and intractable hypoglycemia at birth. The placenta demonstrated placental mesenchymal dysplasia. Detection of hypermethylation of IC1 and hypomethylation of IC2 confirmed Beckwith-Wiedemann syndrome, most likely due to uniparental disomy. Additional findings included right mid-tibial and right 5-8th developmental dysplastic chondromatous lesions, absent corpus callosum and numerous right-sided cortical neuronal heterotopias, right hemihypertrophy, multiple cystic hepatic mesenchymal hamartomas and hepatic infantile hemangiomas, nisidioblastosis and cystic pancreatic lesions. The infant died with multi-organ failure and anasarca at 7 weeks of life.
UNASSIGNED: Beckwith-Wiedemann syndrome anomalies may include multifocal developmental dysplastic chondromatous lesions and cerebral neuronal heterotopias, lateralized, and corpus callosum aplasia.
■一名33孕周的女性在出生时出现脐膨出和顽固性低血糖。胎盘显示胎盘间质发育不良。检测到IC1的高甲基化和IC2的低甲基化证实了Beckwith-Wiedemann综合征,最有可能是由于单亲偏见。其他发现包括右胫骨中段和右5-8发育异常软骨瘤病变,call体缺失和大量右侧皮质神经元异位症,右半肥大,多囊性肝间叶性错构瘤和肝婴儿血管瘤,Nisidioblosis和囊性胰腺病变。婴儿在生命的7周时死于多器官衰竭和anasarca。
■Beckwith-Wiedemann综合征异常可能包括多灶性发育性软骨瘤病变和脑神经元异位,横向化,和call体发育不全。