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Old 09-08-2012
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Arrow Gyrus Daily Questions; Pediatrics #24

A 4-year-old child has mental retardation, shortness of stature, brachydactyly (especially of the fourth and fifth digits), and obesity with round facies and short neck. The child is followed by an ophthalmologist for subcapsular cataracts, and has previously been noted to have cutaneous, subcutaneous, and perivascular calcifications of the basal ganglia. This patient is likely to have which of the following features?


a. Hypercalcemia
b. Hypophosphatemia
c. Elevated concentrations of parathyroid hormone
d. Advanced height age
e. Decreased bone density, particularly in the skull

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  #2  
Old 09-08-2012
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awesome case, this is one of the diseases absent from kaplan which one has to read either from step 1 or by getting it wrong on Qbanks...

I think its C

This is Pseusohypoparathyroidism AKa albright syndrome..
The brachydactyly is almost diagnostic
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cingulate.gyrus (09-08-2012)



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