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CASE REPORT
Year : 2015  |  Volume : 8  |  Issue : 3  |  Page : 194-197

Microphthalmos, orbital cyst, and missing thumbs: A rare case report


Department of Orbit and Oculoplastics, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan

Correspondence Address:
Dr. Hassan Mansoor
Department of Orbit and Oculoplastics, Al-Shifa Trust Eye Hospital, Jhelum Road, Rawalpindi
Pakistan
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-620X.169901

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A 5-month-old girl was presented to us with a right orbital cyst covering a microphthalmic eye, absent digits (thumbs) in both hands, and absence of right radius and left kidney. The hematological profile of the patient was within normal limits. The patient had a family history of leukemia and the chromosomal analysis was suggestive of Fanconi's anemia (FA). The cyst was excised in toto and sent for histopathology. To the best of our knowledge, this is the first case report of an orbital cyst covering a microphthalmic eye in a patient with FA. This case report also stresses the fact that FA can be missed by ophthalmologists in the patients with congenital microphthalmos and missing thumbs and efforts should be made to avoid doing so.


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