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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2015-01-01
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| Series: | Oman Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://www.ojoonline.org/article.asp?issn=0974-620X;year=2015;volume=8;issue=3;spage=194;epage=197;aulast=Afghani |
| _version_ | 1818110151466418176 |
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| author | Tayyab Afghani Hassan Mansoor Waseem Shehzad |
| author_facet | Tayyab Afghani Hassan Mansoor Waseem Shehzad |
| author_sort | Tayyab Afghani |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-11T02:42:35Z |
| format | Article |
| id | doaj.art-6cf83d67f101468e91a3bb2fca016951 |
| institution | Directory Open Access Journal |
| issn | 0974-620X |
| language | English |
| last_indexed | 2024-12-11T02:42:35Z |
| publishDate | 2015-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Oman Journal of Ophthalmology |
| spelling | doaj.art-6cf83d67f101468e91a3bb2fca0169512022-12-22T01:23:31ZengWolters Kluwer Medknow PublicationsOman Journal of Ophthalmology0974-620X2015-01-018319419710.4103/0974-620X.169901Microphthalmos, orbital cyst, and missing thumbs: A rare case reportTayyab AfghaniHassan MansoorWaseem ShehzadA 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.http://www.ojoonline.org/article.asp?issn=0974-620X;year=2015;volume=8;issue=3;spage=194;epage=197;aulast=AfghaniFanconi's anemiamicrophthalmosocular associationsorbital cyst |
| spellingShingle | Tayyab Afghani Hassan Mansoor Waseem Shehzad Microphthalmos, orbital cyst, and missing thumbs: A rare case report Oman Journal of Ophthalmology Fanconi's anemia microphthalmos ocular associations orbital cyst |
| 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 | Fanconi's anemia microphthalmos ocular associations orbital cyst |
| url | http://www.ojoonline.org/article.asp?issn=0974-620X;year=2015;volume=8;issue=3;spage=194;epage=197;aulast=Afghani |
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