Thursday, May 24, 2012


The adolescent shown above comes to you for a school sports physical. Note the long and narrow face with a prominent forehead, chin, and large ears. Perhaps his eyes are slightly sunken. He has developmental and language delay as well as intellectual and learning disabilities. He has a diagnosis of ADHD. He has testicular enlargement but normal function. His father is unknown, and in fact, does not matter in this disease state. The mother's genetics may be sufficient to tell the tale.

Challenge: What's the diagnosis?

First image is in the public domain, second image is shown under Free Art License.


Reflex Hammer said...

Fragile X syndrome!

Craig Chen said...

nicely done!

Fragile X syndrome is the most common inherited cause of intellectual disability. It is caused by an expansion of a CGG trinucleotide segment.

Sources: UpToDate; Wikipedia.