47，XXY核型伴髂总动脉单侧狭窄的“类解体综合征”

'Disorganization-like syndrome' with 47,XXY and unilateral narrowing of the common iliac artery.

作者信息

Woods C G, Treleaven S, Betheras F R, Sheffield L J

机构信息

Victorian Clinical Genetics Service, Murdoch Institute for Research into Birth Defects, Royal Childrens Hospital, Parkville, Melbourne, Australia.

出版信息

Clin Dysmorphol. 1995 Jan;4(1):82-6.

PMID:7735511

Abstract

We described a male infant with a spectrum of anomalies compatible with the diagnosis of 'disorganization-like syndrome'. The infant had a partial foot arising from 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 of disorganization (Ds) may have had a vascular aetiology.

摘要

我们描述了一名患有一系列异常症状的男婴，这些症状符合“紊乱样综合征”的诊断。该婴儿有一只从右臀部长出的部分足部、右肾缺如以及右腿缩短并伴有严重的非姿势性马蹄内翻足。婴儿的核型为47,XXY。右髂总动脉直径仅为预期直径的一半。在这种紊乱（Ds）病例中所见的肢体发育不全缺陷可能有血管病因。