This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Go to /pro/cpd-dashboard page

This page is worth 0.05 CPD credits. CPD dashboard

Go to /account/subscription-details page

This page is worth 0.05 CPD credits. Upgrade to Pro

Diagnosis

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Diagnosis of osteogenesis imperfecta is made on the basis of clinical features. In mild cases which do not manifest until infancy this can be difficult, and non-accidental injury is an important differential.

Severe variants may be diagnosed by ultrasound prenatally; this should be confirmed radiographically at 20 weeks gestation.

There is no accurate biochemical method of prenatal diagnosis, although in some families where the molecular pathology is well-defined, DNA screening may be possible.

Create an account to add page annotations

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.