首页> 外文期刊>clinical dysmorphology >lsquo;Disorganizationhyphen;like syndromersquo; with 47comma; XXY and unilateral narrowing of the common iliac artery
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lsquo;Disorganizationhyphen;like syndromersquo; with 47comma; XXY and unilateral narrowing of the common iliac artery

机译:“紊乱连字符样综合征”,伴有 47逗号;XXY 和单侧髂总动脉狭窄

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摘要

We described a male infant with a spectrum of anomalies compatible with the diagnosis of lsquo;diorganization-like syndromersquo;. The infant had a partial foot arising form the right buttock, an absent right kidney, and a shortened right leg with severe non-positional talipes equinovarus. The infant's karyotype was 47,XXY. The right common iliac artery was one half of the expected diameter. The limb reduction defect seen in this case disorganization (Ds) may have had a vascular aetiology
机译:我们描述了一名男婴,其一系列异常与“双组织样综合征”的诊断相符。婴儿的右臀部部分足部起,右肾缺失,右腿缩短,伴有严重的非位置性马蹄肌。婴儿的核型为47,XXY。右髂总动脉是预期直径的一半。本病例中出现的肢体缩小缺损 (Ds) 可能与血管病因有关

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