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- Title
A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE?
- Authors
Buonuomo, P. S.; El Hachem, M.; Mastrogiorgio, G.; Pisaneschi, E.; Diociaiuti, A.; Rana, I.; Macchiaiolo, M.; Capolino, R.; Gonfiantini, M. V.; Vecchio, D.; Novelli, A.; Bartuli, A.
- 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.
- Subjects
HUMAN abnormalities; GENETIC markers; SYMPTOMS; GENETIC mutation
- Publication
Lymphology, 2022, Vol 55, Issue 1, p36
- ISSN
0024-7766
- Publication type
Article