26th February 2025

A 22-year-old male is reviewed on the respiratory ward.

A 22-year-old male is reviewed on the respiratory ward. He has been admitted to hospital with a spontaneous pneumothorax, which required a chest drain. 

On examination, you note he is tall and slim, with long slender fingers and pectus carinatum. 

A mutation in which gene is most likely to cause the underlying diagnosis?

What is the most likely diagnosis?

Select the SINGLE most appropriate option from the list below. Select ONE option only.