Cystic fibrosis

A couple attend for genetic counselling. Their 3-year-old son has cystic fibrosis, confirmed by newborn screening and genotyping; both parents are carriers of a…

Foundations · common

A 16-month-old girl who arrived in Australia from overseas six months ago is brought to a general practice because she is not gaining weight. Her weight has fal…

Clinical rotations · middle twist

You are the intern on the postnatal ward. The newborn screening laboratory telephones about a 5-day-old girl: the immunoreactive trypsinogen was raised on the b…

Pre-internship · common