ea0030p10 | (1) | BSPED2012
Avatapalle Bindu
, Padidela Raja
, Clayton-Smith Jill
, Freemont Tony
, Burkitt-Wright Emma
, Mughal Zulf
Introduction: Noonan syndrome (NS) (OMIM 163950) is an autosomal dominant clinically heterogeneous disorder characterised by multisystem involvement. Mutations in genes in the RAS/MAP signaling pathways are known to be responsible for ~70% of cases of NS. We report an infant with NS with early onset fragility fractures.Case report: A 15-month-old male infant with a history of atopic eczema, sparse hair on the scalp, slow motor development, feeding diffic...