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A pediatric case of TEK-Related malformations and marfanoid habitus: an incidental finding or a feature?
P S Buonuomo1, M El Hachem2, G Mastrogiorgio1
1Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital Rome, Italy.
Abstract:
Vascular malformations encompass a wide range of complex vascular lesions. Due to the extreme variability of clinical presentation, classification and their related syndromes presents a challenge. Here we describe a case of a boy presenting with Marfanoid habitus, cutaneous vascular malformations, and severe acute anemia due to ileal venous malformations. Although a panel of genetic markers for the Marfan 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.
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