hrp0089rfc15.1 | Growth and syndromes | ESPE2018

Diagnosis of Silver-Russell Syndrome in Patients with Chromosome 14q32.2 Imprinted Region Disruption: Phenotypic and Molecular Analysis

Geoffron Sophie , Habib Walid Abi , Chantot-Bastaraud Sandra , Harbison Madeleine , Salem Jenifer , Brioude Frederic , Netchine Irene , Giabicani Eloise

Background: Silver-Russell syndrome (SRS) (mainly secondary to 11p15 molecular disruption) and Temple syndrome (TS) (secondary to 14q32.2 molecular disruption) are imprinting disorders with very close phenotypic (prenatal and postnatal growth retardation, early feeding difficulties, early puberty) and molecular anomalies. Our objective was to describe the clinical overlap between SRS and TS and to extensively study the molecular aspects of patients with 14q32.2 molecular disru...