Study reveals new way to identify bone disease
Scientists say they have found a new way to identify brittle bone disease as part of a study funded by a hospital charity.
Most patients with brittle bone disease, or osteogenesis imperfecta (OI), are diagnosed after sustaining fractures - but it can be difficult to diagnose the condition in those who do not suffer broken bones.
A total of 15 patients took part in the research led by Dr Meena Balasubramanian, consultant clinical geneticist at Sheffield Children's NHS Foundation Trust.
Dr Balasubramanian carried out detailed clinical exams, X-rays, skin biopsies and genetic testing and was able to identify a genetic cause of the condition in eight of the 15 patients. Dr Balasubramanian said: "We were able to determine the genetic cause for their brittle bones in over half of the patients and in addition, a chromosome imbalance contributing to their clinical features was also identified in three patients."
The results will help provide families with a diagnosis for their child, explore the genetic cause and provide them with the option of prenatal testing with accurate information regarding the recurrence risks.