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

Oman Journal of Ophthalmology
Tayyab AfghaniWaseem Shehzad

Abstract

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.

References

Mar 24, 1999·Current Opinion in Hematology·I Garcia-HigueraA D D'Andrea
Jan 17, 2007·Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie·Salim Ben YahiaMoncef Khairallah
Dec 14, 2011·Hematology·Jean Soulier
May 8, 2013·Acta Ophthalmologica·Alba Lucia TörnquistKristina Teär Fahnehjelm

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Methods Mentioned

BETA
chromosomal aberrations

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