Antley-Bixler syndrome

This is a lecture about the genetic condition Antley-Bixler syndrome, designed for trainees and medical professionals.
Lecture by Angela Chen, BS. Edited by Philip M. Boone, MD, PhD.
References:
Corticosteroids
www.mayoclinic.org/drugs-supp...
www.ncbi.nlm.nih.gov/books/NB...
Antley-Bixler syndrome with normal steroidogenesis
www.omim.org/entry/207410
rarediseases.org/rare-disease...
www.sciencedirect.com/topics/...
Antley-Bixler syndrome with deficient steroidogenesis
www.omim.org/entry/201750
www.ncbi.nlm.nih.gov/pubmed/2...
POR
www.omim.org/entry/124015
www.genecards.org/cgi-bin/car...
FGFR2
www.omim.org/entry/176943#gen...
www.genecards.org/cgi-bin/car...
For more information on clinical trials, visit
www.clinicaltrials.gov
Disclaimer: This video is not intended to guide medical decision making by physicians, patients, or families.

[@forkevbot]

This is a really good overview, just got a patient with this. Would like to clarify that the FGFR2 mutation causes constitutive activity (overactivation) not lack of activity from inability to bind FGF-2. This is similar to achondroplasia with FGFR3 mutation. Both of these diseases have early closure/fushion of growth plates and such just in different places and this one is earlier/more severe.

[@sugarcoma7662]

Thank you so much for explaining this!!!

[@jigsjigs796]

amazing explanation

[@lisareyes6404]

Never heard of no shit fgfr convincy but no I've been on this for yrs now

[@lisareyes6404]

Medical shit my ass