Sturge Weber syndrome, classic triad from a genetic, molecular and physiological approach

Síndrome de Sturge Weber, triada clasica desde un enfoque genético, molecular y fisiopatológico

Keywords: Sturge-Weber Syndrome, Genetics, physiopathology


Sturge Weber syndrome, also known as trigeminal brain angiomatosis, is found within the group of phakomatoses, along with neurofibromatosis, Klippel Trenaunay syndrome, Von Hippel Lindau syndrome, and Tuberous sclerosis.
This has a classic commitment of sporadic neuro-oculo-cutaneous vascular malformations, without a defined hereditary pattern, without gender differences, or predisposition to transformation to malignancy, and an estimated frequency of 1 per 50,000 live births.


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