General

A 10-day-old boy born at term is brought in with two days of poor feeding, vomiting and lethargy, and today is floppy and grey. He is afebrile, with a heart rat…

Clinical rotations · niche

You are drawing a three-generation pedigree for a 7-year-old girl referred with recurrent headaches. Her mother mentions that the child's father, from whom she…

Pre-internship · middle twist

A 9-year-old boy has two years of worsening exercise intolerance, drooping eyelids and newly fitted hearing aids. You take a family history to draw a pedigree.…

Clinical rotations · middle twist

A 3-week-old boy has just had a pyloromyotomy for infantile hypertrophic pyloric stenosis. He is his parents' first child and neither parent nor any grandparent…

Clinical rotations · middle twist

A woman has an amniocentesis at 17 weeks after a cell-free DNA test reported a high chance of trisomy 21. She is booked to fly interstate in three days for a fa…

Pre-internship · middle twist

A couple in their early thirties have had three consecutive first-trimester miscarriages and have no living children. Both are well and neither has a family his…

Clinical rotations · middle twist

A 39-year-old woman at 12 weeks of her fourth pregnancy is told that her cell-free DNA screening test reports a high chance of trisomy 21. Her nuchal translucen…

Pre-internship · common

A couple attend at nine weeks of a planned pregnancy. Their first child has cystic fibrosis, and both parents are known carriers of the same CFTR variant. They…

Clinical rotations · common

A 7-day-old breastfed girl is admitted with a two-day history of poor feeding and vomiting. She is deeply jaundiced, lethargic and hypothermic, with a liver edg…

Clinical rotations · niche

A boy born at 38 weeks is hypotonic and feeds slowly. Rapid chromosome testing has confirmed trisomy 21. He is pink in air with a normal respiratory rate, the p…

Pre-internship · middle twist

A term girl weighing 2.6 kg is examined before discharge. The backs of both hands and both feet are puffy and doughy, and there is loose redundant skin over the…

Clinical rotations · middle twist

A 13-year-old boy attends with his mother because his school has asked for a diagnosis. He has always been behind his peers and reads at a Year 3 level. He avoi…

Clinical rotations · middle twist

A 19-day-old boy has vomited after most feeds for the past week. He is 9 per cent below his birth weight, lethargic, with dry mucous membranes and cool peripher…

Foundations · middle twist

A 7-month-old infant becomes lethargic after an overnight fast during gastroenteritis. Blood glucose is 1.9 mmol/L (reference 3.5–6.0 mmol/L), beta-hydroxybutyr…

Foundations · niche