Hello and welcome to the Zero to Finals podcast.

My name is Tom, and in this episode I'm going to be talking to you about

osteogenesis imperfector.

And you can find written notes on this topic at zero tofinals.com slash osteogenesis imperfector

or in the orthopedic section of the Zero tofinals Pediatrics book. So let's get straight

into it. Osteogenesis Imperfactor is a genetic condition that results in brittle bones that are prone to

fractures. It's also known as brittle bone syndrome. It's caused by a range of genetic mutations that affect the formation

of collagen. Collagen is a protein that is essential in maintaining the structure and the function

of bone, as well as the skin, tendons and other connective tissues. There are eight types of

osteogenesis imperfector depending on the underlying genetic mutation,

and they vary in severity.

Let's start with the presentation.

Osteogenesis imperfector presents with recurrent and inappropriate fractures.

There are several associated features that include hypermobility,

blue or grey scler, which is a blue or grey discoloration to the whites of the eyes,

a triangular face, a short stature, deafness from early adulthood,

dental problems, particularly with the formation of teeth,

bone deformities such as bowed legs and scoliosis, and joint or bone pain.

A tom tip for you.

The key feature in exams that should make you think about osteogenesis imperfector is the blue sclera.

This is a unique feature that examiners love to drop in.

The exam patient may be a young child with unusual and recurrent fractures that would normally

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