Hi, this is Tom, and in this episode I'm going to be going through Marfan

syndrome, and you can find notes at zero to finals.com slash marfan and in the zero to finals

pediatrics book. And you can find flashcards and questions at members.0.0.0.com.

So let's jump straight in.

Marfan syndrome is an autosomal dominant genetic condition caused by mutations in the FBN1 gene,

which encodes for fibrillin 1, which is an important component of connective tissue.

It produces features resulting from abnormal connective tissue due to problems with the fibrylin 1 protein.

Let's go through the features. The key features of Marfan syndrome include a tall

stature and a long neck, an increased arm span to height ratio, meaning they have longer

arms than their height, arachnodactyl, which are long, slim fingers, a high-arched palette at the roof of the

mouth, joint hypermobility, particularly in childhood, and pectus caranatum, which is an outwardly

protruding chest, or pectus excavatum, which is a sunken chest.

Arakno-dactyl is a key feature of Marfan syndrome, and it refers to abnormally long, slender fingers.

Arachno refers to spiders, and dactylase refers to fingers.

There are two tests that you can do to look for arachnodactyl.

The Steinberg thumb sign, which involves asking the patient to cross their thumb

across the palm of their hand and then gripping it in a fist to see if the thumb goes past

the ulna border of the hand at the other side of the hand.

And the Walker Murdoch wrist sign, which involves asking the patient to wrap the thumb

and the little finger around the opposite wrist to see if the tips of the thumb and the little finger around the opposite wrist to see if the tips of the thumb

and the little finger overlap when wrapping it around the other wrist.

A tom tip for you, if a patient in your OSCI exam appears tall, has long limbs or has a murmur suggestive of aortic regurgitation,

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