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.

7 comments:

  1. Prader-Willi Syndrome

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  2. 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.

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  3. nice job!
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    Gutenberg

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

    Sources: UpToDate; Wikipedia.

    ReplyDelete

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