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

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 c...

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Autores principales: Afghani, Tayyab, Mansoor, Hassan, Shehzad, Waseem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4738670/
https://www.ncbi.nlm.nih.gov/pubmed/26903731
http://dx.doi.org/10.4103/0974-620X.169901
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author Afghani, Tayyab
Mansoor, Hassan
Shehzad, Waseem
author_facet Afghani, Tayyab
Mansoor, Hassan
Shehzad, Waseem
author_sort Afghani, Tayyab
collection PubMed
description 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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spelling pubmed-47386702016-02-22 Microphthalmos, orbital cyst, and missing thumbs: A rare case report Afghani, Tayyab Mansoor, Hassan Shehzad, Waseem Oman J Ophthalmol Case Report 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. Medknow Publications & Media Pvt Ltd 2015 /pmc/articles/PMC4738670/ /pubmed/26903731 http://dx.doi.org/10.4103/0974-620X.169901 Text en Copyright: © 2015 Oman Ophthalmic Society http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution NonCommercial ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Afghani, Tayyab
Mansoor, Hassan
Shehzad, Waseem
Microphthalmos, orbital cyst, and missing thumbs: A rare case report
title Microphthalmos, orbital cyst, and missing thumbs: A rare case report
title_full Microphthalmos, orbital cyst, and missing thumbs: A rare case report
title_fullStr Microphthalmos, orbital cyst, and missing thumbs: A rare case report
title_full_unstemmed Microphthalmos, orbital cyst, and missing thumbs: A rare case report
title_short Microphthalmos, orbital cyst, and missing thumbs: A rare case report
title_sort microphthalmos, orbital cyst, and missing thumbs: a rare case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4738670/
https://www.ncbi.nlm.nih.gov/pubmed/26903731
http://dx.doi.org/10.4103/0974-620X.169901
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