Wednesday, September 24, 2008

Give Me Five

Challenge: This finding in conjunction with a protruding tongue, an atrioventricular septal defect, duodenal atresia, and astigmatism suggest what disease?

Image shown under fair use.


Alex said...

trisomy 21

kate said...

Down syndrome!

Craig Chen said...

Give Me Five

This is a transverse palmar crease (also known as a Simian crease) seen in Down syndrome. Down syndrome (trisomy 21) also presents with upslanting palpebral fissures, epicanthic folds, Brushfield spots (white spots on the iris), protruding tongue, flat nasal bridge, short neck, short broad hands, MR, cardiac defects, GI abnormalities, short stature, obesity, eye problems, hearing loss, hematologic disorders, endocrine disorders, atlantoaxial instability, skin disorders, and behavioral disorders (and others).

Source: UpToDate, original photo courtesy of Clark, DA.