hrp0095t10 | Section | ESPE2022
Dufourg Marie-Noëlle
, Diene Gwenaelle
, Cachanado Marine
, Vu-Hong Thuy-Ai
, Berard Laurence
, Rousseau Alexendra
, Soussi Nora
, Pinto Graziella
, Rouleau Stéphanie
, Bernoux Delphine
, Chalard François
, Ducou Le Pointe Hubert
, Lamaziere Antonin
, Tauber Maite
, Netchine Irène
Background: Silver Russell syndrome (SRS) is a rare imprinting disorder with prenatal and postnatal growth retardation and feeding difficulties. The main molecular causes are loss of methylation of the 11p15.5 imprinting control region (H19/IGF2) and maternal uniparental disomy of chromosome 7. Prader-Willi syndrome (PWS) is a complex neurodevelopmental imprinting disorder with neonatal muscular hypotonia, failure to thrive to insatiable appetite, sho...