A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE?

Vascular malformations encompass a wide range of complex vascular lesions. Due to the extreme variability ofclinicalpresentation, classification and their related syndromes presents a challenge. Here we describe a case ofa boypresenting with Marfanoid habitus, cutaneous vascular malformations, and severe acute anemia due to ileal venous malformations. Although a panel ofgenetic markers for the Marian phenotype was negative, we identified a de novo mutation in the TEK gene in the patient. This case supports expansion of the phenotypic spectrum of TEK-related vascular malformations.