Monday, January 30, 2012


This 1680 painting and these photographs both depict the same disease. These patients are often born by C-section due to breech, decreased fetal activity, and polyhydramnios. Prenatal ultrasound might show unusual positioning of hands and feet. As neonates, patients demonstrate profound hypotonia, feeding difficulties, a weak cry, and genital hypoplasia. Toddlers are slow to acquire their motor milestones, and starting between age 1-6, they become obese from eating a lot. Patients are often short and have growth hormone deficiency. Most patients show some behavioral problems and learning difficulties.

Challenge: What's your diagnosis?

First image is in the public domain. Second image shown under Creative Commons Attribution Share-Alike License.


Anonymous said...

Prader-Willi Syndrome

Dr Pepper said...

Prader-Willi Syndrome?

Reflex Hammer said...


Lucy said...

Prader willi syndrome

Anonymous said...


Albert said...

Prader-Willi syndrome? They had an episode of extreme home makeover where they had to design special kitchens since one of the kids had P-W syndrome.

Craig Chen said...

nice job!

This is Prader-Willi syndrome, a disease whose genetics follow imprinting.

Sources: UpToDate; Wikipedia.