Patient’s spinal fracture leads to GP diagnosis of rare genetic disorder
An unusual spinal fracture led GP Dr John Manton to uncover a rare genetic disorder that would have probably gone undiagnosed without him. His patient…
Tag: Genetics
Spot Dx — Is the answer on the tip of his tongue?
Kevin, a 45-year-old finance manager, presents with altered bowel habits on a background of longstanding irritable bowel syndrome (IBS). Test your clinical know-how by taking…
Toddler’s unexplained injuries lead to Australian-first skin fragility diagnosis
A suspected child abuse case in a two-year-old girl turned out to be an Australian-first presentation of a rare epidermolysis bullosa subtype. Doctors say their…
Medical Must-See: Port-wine stain and a bony growth
Klippel–Trenaunay syndrome is easily diagnosed at birth but sometimes slips past doctors, according to Indian dermatologists who found the rare genetic condition in a three-year-old…
A GP guide to loss of ovarian function in younger women
Premature ovarian insufficiency (POI) is defined as loss of ovarian function before age 40, and early menopause (EM) as menopause occurring between the ages of…
How a ‘pretty unusual’ set of symptoms led doctors to Australia’s first case of fatal familial insomnia
A 32-year-old with a snoring problem turned out to be a rare and tragic example of fatal familial insomnia, the first case seen in Australia.…
Second pig heart transplant patient dies six weeks after procedure
The second patient to be transplanted with a genetically modified pig’s heart has died. Lawrence Faucette was first admitted to hospital on 14 September with…
Forgotten and misunderstood: Intersex patients need more doctors fighting in their corner
I don’t know about you, but I learned very little about variations in sexual development during my medical education over a decade ago. Commonly presented…
Case reports: X-linked hypophosphataemia uncovered
Meet two very different patients with XLH and find out how they are managed
XLH in pictures: why GPs need to know about this inherited condition
A short video explainer on diagnosis and management in primary care
