Vulto-van Silfhout-de Vries syndrome: clinical case.

Abstract

Vulto-van Silfhout-de Vries syndrome (VSVS) — is an orphan disease with an autosomal dominant pattern of inheritance associated with speech and intellectual impairment, psychomotor retardation, and behavioral abnormalities, including autistic behavioral traits and poor vision. The literature describes 35 individuals with 28 different denovo pathogenic variants of VSVS associated with DEAF1. Most patients had additional nonspecific signs, including hypotension and gait disturbances, seizures, high pain threshold, and sleep disturbances. The aim of the study. The purpose of this study was to demonstrate a clinical case of a rare hereditary Vulto-van Silfhout-De Vries Syndrome.