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一种表现为交叉双侧肢体肥大和轴后多指的 Klippel-Trénaunay 综合征不典型病例:病例报告。

An atypical case of Klippel-Trénaunay syndrome presenting with crossed-bilateral limb hypertrophy and postaxial polydactyly: a case report.

机构信息

Department of Pediatrics, Texas Children's Hospital, Houston, Texas, USA.

Division of Neonatology, Department of Pediatrics, University of Texas Medical Branch at Galveston, Galveston, Texas, USA.

出版信息

BMC Pediatr. 2019 Apr 6;19(1):95. doi: 10.1186/s12887-019-1480-0.

Abstract

BACKGROUND

Klippel-Trénaunay syndrome (KTS) is a rare congenital condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, and bony and/or soft tissue hypertrophy.

CASE PRESENTATION

Here we report the first case of a one-day-old male with KTS presenting with crossed-bilateral limb hypertrophy and post-axial polydactyly.

CONCLUSION

This case serves to highlight the variable presentation and multiple problems faced by patients with KTS and why multidisciplinary management is mandatory.

摘要

背景

Klippel-Trénaunay 综合征(KTS)是一种罕见的先天性疾病,其特征为毛细血管畸形(葡萄酒色斑)、伴有或不伴有静脉畸形的静脉曲张以及骨和/或软组织肥大的三联征。

病例介绍

本文报告了首例 1 天男婴 KTS 病例,表现为双侧肢体交叉性肥大和轴后多指。

结论

该病例强调了 KTS 患者临床表现的多变性和所面临的多种问题,也说明了多学科管理的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1dd4/6451243/f80177b85dc9/12887_2019_1480_Fig1_HTML.jpg

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