Expert reviews
Noonan syndrome is a relatively common autosomal dominant disorder (1:1000 to 1:2500 live births) characterised by facial dysmorphism, short stature, chest deformities and congenital heart defects. Variable developmental delay and intellectual disability are also observed in some patients.
Case studies
Case History – The Importance of Thorough History Taking
A 4-year-old girl, referred to the Paediatric Assessment Unit by the GP, with a 2-week history of a cough, feeling unwell, and tired. Accompanied by her mother.
Podcasts
Research focus: ‘Health not height’ – Trial results for a targeted treatment for children with achondroplasia
Professor Ravi Savarirayan talks through the recently published results in The New England Journal of Medicine for the C-type natriuretic peptide analogue vosiritide in children with achondroplasia.
News
Cognitive performance impacted in Silver-Russell syndrome, particularly with underlying mUPD7
Researchers have found reduced brain volume in children with Silver-Russell Syndrome, as well as cognitive impairment that is dependent on the underlying genetic defect.
