Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Phelan-McDermid syndrome (PMS) or 22q13.3 deletion syndrome is a heterogeneous monogenetic syndrome. Patients present a diversity of medical, developmental and behavioural features. The aim of the present study is to further characterize the phenotype of patients with PMS. This study is a monocentric, retrospective study consisting of 14 patients with a cytogenetic proven 22q13.3 deletion. Major findings are developmental delay in combination of a large phenotypic variability, altered neurological findings such as hypotonia, gait difficulties and epilepsy, language impairment combined with regression, altered behaviour and a high incidence of psychiatric disorders. Longitudinal follow-up and more prospective studies are needed to determine the natural course of the syndrome with advancing age.