De Blasi R, Zenzola A, Lanzilotti C M, Resta M, Caputi O, Lamberti P, Simone F, Pangrazio M T, Carella A
Department of Neuroradiology, University of Bari, Italy.
Neuroradiology. 2000 Dec;42(12):930-2. doi: 10.1007/s002340000484.
The Klippel-Trenaunay syndrome (KTS) is a congenital disorder resulting from a mesodermal abnormality, characterised by cutaneous capillary haemangiomas, hypertrophy of bone and soft tissues and varicose veins. The presence of intracranial aneurysms has rarely been described, while oesophageal duplication has not been reported previously. We describe a patient with the KTS with both there additional abnormalities, which could be explained by a postulated mosaic gene abnormality.
克-特综合征（KTS）是一种由中胚层异常引起的先天性疾病，其特征为皮肤毛细血管瘤、骨骼和软组织肥大以及静脉曲张。颅内动脉瘤的存在鲜有报道，而食管重复畸形此前未见报告。我们描述了一名患有克-特综合征且伴有这两种额外异常情况的患者，这可能由一种假定的嵌合基因异常来解释。
