Ocular Features – Friday Pop Quiz – 2/22

A 2 year old girl presents with the ocular feature seen in this photo. She also has a small eyes, sparse hair and 4 digits on the left and short digit on the right foot. What finding would confirm the diagnosis?

A. X-ray demonstrating osteopathia striata
B. X-ray demonstrating osteopoikilosis
C. Histologic finding of calcification of elastic tissue.
D. Identification of WRN gene
E. Bilateral bean-shaped opacities on cranial X-ray

To find out the correct answer and read the explanation, click here.

 

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