Monday, December 13, 2010

Opposite of Midnight



Challenge: What autosomal dominant disease associated with pulmonary valve abnormalities and hypertrophic cardiomyopathy is shown above?

Images shown under Fair Use.

5 comments:

Roxy said...

Noonan Syndrome

Anonymous said...

noonan sd

Crispin said...

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

Craig Chen said...

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."

Craig Chen said...

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.