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.
Rachel Fieldhouse
Dr John Manton.

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.