Abstract
Cornelia de Lange syndrome (CdLS) is a rare genetic disease, which incidence is estimated in 1:50,000 individuals. From the etiological perspective, CdLS has locus heterogeneity and, to date, mutations in five different genes have been implicated in its pathophysiology. The clinical picture is also varied, consisting mainly of typical facial dysmorphisms, pre and postnatal growth retardat…