Endocrinology- Short Stature

Portable Peds

Today we’ll be covering Short Stature, going along with this month’s theme, Endocrinology. If you haven’t listened to our podcast before, each week we have a case-based discussion about a medical topic to help you study for the pediatric medicine board exam. Episodes are released every weekend, and the case is then reviewed and reinforced on social media throughout the week.

Follow the podcast on social media:

Facebook- @portablepeds (www.facebook.com/portablepeds)

Twitter- @portablepeds (www.twitter.com/portablepeds)

We'd love to hear from you via email at [e-mail]!

Also, feel free to visit our website, www.portablepeds.com, for more content.

Today’s Case:

A 4 month old female infant presents to your clinic for their 4 month well child check and to establish care. You note that her length measurement is >2 standard deviations below the mean. On exam, you appreciate hypotonia, dysmorphic features, including midfacial hypoplasia with relative macrocephaly and frontal bossing, along with short, broad hands with increased space between the middle 3 fingers. This patient also has more prominent shortening of their proximal limbs compared to the rest of their body. Which of the following genetic tests would you expect to be abnormal in this patient?

1. Genetic testing for SHOX mutation
2. Genetic testing for Chromosome 15q11-q13 deletions
3. Genetic testing for FGFR3 mutation
4. Karyotype
5. Genetic testing for PTPN11 mutation

We would like to give an enormous thank you to Zack Goldmann for designing this podcast’s logo and accompanying artwork. You can find more of his work at www.zackgoldmann.com.

The intro and outro of this podcast is a public domain song obtained from scottholmesmusic.com.

Intro/Outro- Hotshot by Scott Holmes

Disclaimer:

This podcast is intended for healthcare professionals. The information presented is for general educational purposes only and should NOT be used as professional medical advice or for the diagnosis or treatment of medical conditions.

The views and opinions expressed do not represent the views and opinions of our employer or any affiliated institution. Expressed opinions are based on specific facts, under certain conditions, and subject to certain assumptions and should not be used or relied upon for any other purpose, including, but not limited to, the diagnosis or treatment of medical conditions or in any legal proceeding. Full terms and conditions can be found at portablepeds.com.

Thanks for listening! As always, please Rate and Review this podcast on Apple Podcasts, Facebook, or your favorite podcasting platform. Also, Subscribe to get all the latest episodes, and Share this episode with someone you think would enjoy it! Hope to see you real soon!