hrp0084p2-397 | GH & IGF | ESPE2015
Dufourg Marie-Noelle
, Perin Laurence
, Houang Muriel
, Daubard Marie-Laure
, Brioude Frederic
, Bouc Yves Le
, Netchine Irene
Background: Silver-Russell syndrome (SRS) is characterized by intrauterine and postnatal growth retardation, relative macrocephaly at birth, prominent forehead, severe feeding difficulties and body asymmetry. In around 50%, it is secondary to hypomethylation at the IGF2/H19 imprinted locus on 11p15 (11p15 LOM), and in 10% to a maternal disomy of chromosome 7 (mUPD7). Mechanisms of postnatal growth failure in SRS are not well understood.Objective and hypo...