hrp0086p1-p802 | Syndromes: Mechanisms and Management P1 | ESPE2016

Cognitive Evaluation in Silver Russell Children

Patti Giuseppa , Malainho Virginie Coutinho , Dellatolas Georges , Dubern Beatrice , Doummar Diane , Netchine Irene

Background: Silver-Russell syndrome (SRS) is a heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features. The major abnormality is the hypomethylation of paternal allele of 11p15 imprinting centre region 1. In 10% of cases a maternal uniparental disomy of chromosome 7 (UPD7) can be detected. Speech delay and learning difficulties have been reported in these patients.Objective and hypothes...