ea0030oc2.7 | Oral Communications 2 | BSPED2012
Sakhinia Faezeh
, Hanson Dan
, Murray Philip
, Kirk Jeremy
, Cole Trevor
, Skae Mars
, Banerjee Indi
, Padidela Raja
, Patel Leena
, Clayton Peter
Background: 3-M syndrome is associated with severe proportionate pre- and postnatal growth restriction, and is caused by mutations in CUL7, OBSL1, or CCDC8 genes.Aims and methods: To define baseline growth and GHIGF1 axis status as well as response to r-hGH in relation to mutation status in 3-M children, using retrospective analysis of data from clinical notes.Results: 50 individuals (19 CUL7, 19 <...