ea0019oc25 | Bone and Calcium | SFEBES2009
Dias R
, Bogdarina I
, Johnston L
, Buchanan C
, Savage M
, Hokken-Koelega A
, Clark A
Background: Russell–Silver syndrome (RSS) is a heterogeneous condition characterised by pre- and post-natal growth retardation in association with variable dysmorphic features including triangular facies and body asymmetry. The condition has previously been linked to 2 genetic abnormalities: aberrant methylation at the 11p15.5 locus in 30–40% and maternal uniparental disomy (UPD) of chromosome 7 in 10% of cases. Up to 50% of children currently have no identified (epi...