Abstract：
UNASSIGNED: Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder that exhibits etiologic genomic imprinting characterized by molecular heterogeneity and phenotypic variability. Associations with localized developmental dysplastic chondromatous lesions and cortical neuronal heterotopias have not previously been described.
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.
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.
摘要：
■Beckwith-Wiedemann综合征（BWS）是一种过度生长障碍，表现为以分子异质性和表型变异性为特征的病因学基因组印记。先前尚未描述与局部发育异常软骨瘤病变和皮质神经元异位症的关联。
■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。
■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。
