华氏微综合征-一种不寻常的表现与简要的文献回顾

Laraib Malik
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引用次数: 0

摘要

六个月大的孩子因发育迟缓而引起我们的注意。孩子因麻疹来到我们医院,详细的病史和检查显示,6个月大时出现发育迟缓。他在4个月大时接受了白内障手术。此时发现了其他异常,包括小头畸形、微角膜、微眼炎、前转耳、双侧回缩睾丸、微阴茎。腰骶椎X线片显示隐性脊柱裂。没有任何遗传性疾病的家族史。MRI显示胼胝体部分发育不全,所有这些发现都提示遗传性疾病。因此,婴儿被诊断为Warburg微综合征。因此,如果儿童仅出现双侧白内障,则有必要寻找先天性风疹以外的其他综合征,先天性风疹与Warburg综合征非常相似
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Warburg Micro Syndrome- An Unusual Presentation with Brief Review of Literature
Six months old child brought to our attention for developmental delay. Child came to our hospital for measles, on detailed history and examination, developmental delay noted at 6 months of age. He was operated for cataract at 4 months of age. At this time other anomalies including microcephaly, micro cornea, micro ophthalmia, anterior turning of ears, bilateral retractile testis, micro phallus was noted. X-ray lumbosacral spine showed spina bifida occulta. No family history of any genetic disorder. MRI revealed partial agenesis of corpus callosum, all of the mentioned findings are suggestive of a genetic disorder. Baby was therefore diagnosed as Warburg micro syndrome. It is therefore necessary to look for other syndromes too other than congenital rubella, which closely mimics Warburg syndrome, if a child presents with bilateral cataract only
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