1st April 2022

A mother presents to the GP with her 4-month-old son with concerns

A mother presents to the GP with her 4-month-old son with concerns that he is not growing as fast as he should be. On examination, you notice that he has a large forehead and cheeks, a swollen abdomen and is very pale. The family is of Mediterranean background. What is the most likely diagnosis?

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