Patient’s spinal fracture leads to GP diagnosis of rare genetic disorder
Patients with deletions on chromosome 13 can present with a variety of symptoms.
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 was already 40 when they presented to him after minor trauma in 2015.
“We did a thoracic spine X-ray which showed a bit of wedging, which was unusual,” says Dr Manton, who works in Gympie, about 200km north of Brisbane.
“I did his bone density and it was low.
