ea0023p15 | (1) | BSPED2009
Kumar Priya
, Fryer Alan
, Ellison Julie
, Blair Joanne
Background: The term neuro-cardio-facial-cutaneous (NCFC) syndrome describes a group of phenotypically overlapping syndromes that result from germline mutations in genes of the RAS-MAPKinase pathway. This pathway plays a role in growth factor signalling and short stature is a consistent feature of NCFC syndromes. This diagnostic group includes Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome. Growth hormone (GH) has been used with good effect in NS. T...