Suppr超能文献

津巴布韦布拉瓦约的贝克威思-维德曼综合征。

Beckwith-Wiedemann syndrome in Bulawayo, Zimbabwe.

作者信息

Wolf B H, Ikeogu M O

机构信息

Department of Paediatrics, Bulawayo Central Hospital, Zimbabwe.

出版信息

Cent Afr J Med. 1993 Jul;39(7):147-52.

PMID:8205609
Abstract

Beckwith-Wiedemann syndrome is an easily recognised syndrome in its complete form with macroglossia and exomphalos. The three cases reported here are an attempt to increase awareness of the existence of this syndrome which has serious consequences. All our patients had the combination of macroglossia and exomphalos, but none developed symptomatic hypoglycaemia. Growth patterns were distinctly different in all cases. One patient was the first of a pair of twins. The syndrome is inherited in an autosomal dominant fashion with incomplete penetrance and variable expressivity. Early diagnosis should alert the clinician to the risk of eventual neonatal hypoglycaemia and long term follow up is warranted because of a possible development of malignancies in childhood. The reason for the very low incidence of the syndrome in Bulawayo remains unexplained.

摘要

贝克威思-维德曼综合征在其完整形式下是一种易于识别的综合征,伴有巨舌症和脐膨出。本文报告的三例病例旨在提高对这种具有严重后果的综合征存在的认识。我们所有的患者都有巨舌症和脐膨出的组合,但均未出现症状性低血糖。所有病例的生长模式明显不同。一名患者是一对双胞胎中的老大。该综合征以常染色体显性方式遗传,具有不完全外显率和可变表达性。早期诊断应使临床医生警惕最终发生新生儿低血糖的风险,并且由于儿童期可能发生恶性肿瘤,因此有必要进行长期随访。该综合征在布拉瓦约发病率极低的原因仍无法解释。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验