Challenge: What autosomal dominant disease associated with pulmonary valve abnormalities and hypertrophic cardiomyopathy is shown above?Images shown under Fair Use.
Subscribe to:
Post Comments (Atom)
skip to main |
skip to sidebar
I put together these medical challenges. The cases are hypothetical and do not necessarily represent actual or typical presentations of medical diseases. Disclaimer is at the bottom of this page.
Blog Archive
Labels
- Announcements (48)
- Emergency Medicine (217)
- Family Medicine (261)
- Internal Medicine (407)
- Neurology and Psychiatry (199)
- Obstetrics and Gynecology (126)
- Other (22)
- Pediatrics (208)
- Surgery (195)
- USMLE "Classic Findings" (25)
Posts
Disclaimer
The content of this site is for educational purposes only. The author of the site does not provide any medical advice and information here should not be construed or used as such. Using this site does not create a physician-patient relationship and is not intended to replace the services of a licensed, trained physician or health professional. No health or medical related decision should be based in whole or in part on anything contained here. Any opinions expressed here are not necessarily those of the author nor do they reflect the opinions of any of the author's affiliations. Content on this site may be changed without notice and is not guaranteed to be complete, correct, or up-to-date. Any comments posted to the site can be edited, modified, or removed by the author of this site.
5 comments:
Noonan Syndrome
noonan sd
Hey Creg, this is "Noonan syndrome." An autosomal dominant syndrome phenotypically somewhat similar to Turner syndrome... tetralogy of Fallot and hypertrophic cardiomyopathy.
Thanx for this wonderful and helpful blog! Crispin
Hi guys! Nice job! My internet is giving me lots of problems but you are all right...it's Noonan syndrome! I'm impressed - I can never figure out the genetic syndromes in "funny looking kids."
Opposite of Midnight
Noonan syndrome is characterized by facial dysmorphism (hypertelorism, downward eye slant, low-set ears), short stature, and heart disease. They also often have a short webbed neck, chest deformity (pectus excavatum), cryptorchidism, mental retardation, bleeding diathesis, and lymphedema.
Sources: UpToDate; www.sahha.gov.mt.
Post a Comment