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Orbit/Oculoplastics Quiz 20: Three-month-old girl with bilateral eyelid abnormalities
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Aaron Savar, M.D. | Harvard Medical School/ Massachusetts Eye and Ear Infirmary

August 4, 2006
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Patient at 3 months
5 years

Case History
A 3-month-old female was referred for evaluation of bilateral eyelid abnormalities. There was a strong family history of congenital eyelid abnormalities including her father, paternal aunt, and paternal grandfather.
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Questions
1. What is the diagnosis and what are the characteristic findings?
2. What are the associated findings in this condition?
3. Describe the genetics and pathogenesis of the condition?
4. What is the differential diagnosis?
5. What is the treatment?
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