A rare case of Klippel–Trenaunay syndrome in a neonate

Abstract

Klippel–Trenaunay syndrome (KTS) is a rare syndrome of congenital capillary-venous vascular malformation associated with altered limb bulk and/or length. It is characterised by capillary nevus, varicosities and hypertrophy of bones and tissues of the affected limb. These three features constitute the primary diagnostic criteria of this syndrome. Although the cause of this disorder is unknown, it has a sporadic occurrence with some reports mentioning autosomal dominant transmission as well. The diagnosis of this embryological malformation is mainly clinical along with supportive evidence from other imaging modalities. In this article, we report a 5-dayold male baby who had phenotypic features suggestive of KTS and was later confirmed by magnetic resonance imaging.