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.
Monday, January 30, 2012
Gutenberg
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.
Prader-Willi Syndrome
ReplyDeletePrader-Willi Syndrome?
ReplyDeletePrader-Willi?
ReplyDeletePrader willi syndrome
ReplyDeletePrader-Willi
ReplyDeletePrader-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.
ReplyDeletenice job!
ReplyDelete-
Gutenberg
This is Prader-Willi syndrome, a disease whose genetics follow imprinting.
Sources: UpToDate; Wikipedia.