Pálsson Gestur I, Finnsdóttir Valdís, Jóhannsson Jóhann Heioar, Ingvarsson Sigurour
Barnaspítali Hringsins, Landspítala.
Laeknabladid. 2005 Nov;91(11):837-40.
Beckwith-Wiedemann syndrome (BWS) is a generalized overgrowth condition as well as regional and organ overgrowth in newborn children. It includes an increased risk of certain embryonal tumours. The aetiology of BWS is complex as different genetic and epigenetic alterations at chromosome region 11p15.5 may occur. We report the first case of paternal uniparental disomy in Beckwith-Wiedemann syndrome in Iceland. The diagnosis of Beckwith-Wiedemann syndrome is important as the risk of malignant tumors makes it mandatory that the children are followed for several years with regular investigations to detect the tumors as early as possible.
贝克威思-维德曼综合征（BWS）是一种新生儿全身性过度生长疾病，同时伴有局部和器官过度生长。它包括某些胚胎性肿瘤的发病风险增加。BWS的病因复杂，因为11p15.5染色体区域可能发生不同的基因和表观遗传改变。我们报告了冰岛首例贝克威思-维德曼综合征父源性单亲二体的病例。贝克威思-维德曼综合征的诊断很重要，因为恶性肿瘤的风险使得必须对患儿进行数年的定期检查随访，以便尽早发现肿瘤。
