A new way to diagnose children with brittle bone disease who don’t have fractures has been discovered by researchers in a study funded by Sheffield Children’s Hospital Charity.
Most patients with brittle bone disease, or osteogenesis imperfecta, are diagnosed after sustaining fractures.
But for the minority who aren’t it can be difficult to diagnose in a clinical setting.
Meena Balasubramanian led a study at Sheffield Children’s Hospital to explore patients with an unexplained diagnosis.
Through detailed clinical exam, X-ray, skin biopsy and genetic testing, Meena was able to identify a genetic cause of the condition in eight of the 15 patients who took part in the study.
It also allowed the range of clinical features of patients with an atypical presentation of osteogenesis imperfecta to be defined.
Meena 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.
“This study helped paved the way for better identifying of patients with atypical presentation of the disease.”