Article
Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population.
Pediatric research - 1 Jun 2005
Amenta Stella, Sofocleous Christalena, Kolialexi Angeliki, Thomaidis Loretta, Giouroukos Sotiris, Karavitakis Emmanuel, Mavrou Ariadni, Kitsiou Sophia, Kanavakis Emmanuel, Fryssira Helen
Abstract excerpt
Williams syndrome (WS) is a well-recognized neurodevelopmental disorder manifested by both connective tissue and CNS abnormalities. The study depicts the 8-y experience and follow-up of 50 Greek children with the clinical diagnosis of WS. Clinical data on the facial features and cardiovascular, endocrinologic, and neurodevelopmental evaluation are presented. The most consistent findings were dysmorphic features...
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