Oculocutaneous Albinism associated with Axenfeld’s Anomaly : Three case reports
Oculocutaneous albinism and anterior mesodermal dysgenesis are well-known heritable conditions, but their occurrence in association has only been rarely reported. We present cases of three siblings of a family with identical presentation suggesting that this association may be more than just a coinc...
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| Format: | Article |
| Language: | English |
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Sultan Qaboos University
2010-04-01
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| Series: | Sultan Qaboos University Medical Journal |
| Subjects: | |
| Online Access: | https://journals.squ.edu.om/index.php/squmj/article/view/1460 |
| _version_ | 1811282371408822272 |
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| author | B R Keshav Mahmood J Mohammed Nasir Mahmood |
| author_facet | B R Keshav Mahmood J Mohammed Nasir Mahmood |
| author_sort | B R Keshav |
| collection | DOAJ |
| description | Oculocutaneous albinism and anterior mesodermal dysgenesis are well-known heritable conditions, but their occurrence in association has only been rarely reported. We present cases of three siblings of a family with identical presentation suggesting that this association may be more than just a coincidence. This association is worth noting, as this could be one of the causes of ocular morbidity and poor vision in oculocutaneous albinism. |
| first_indexed | 2024-04-13T01:51:24Z |
| format | Article |
| id | doaj.art-19ad2d7d91d04c28abc06f560bc9b78d |
| institution | Directory Open Access Journal |
| issn | 2075-051X 2075-0528 |
| language | English |
| last_indexed | 2024-04-13T01:51:24Z |
| publishDate | 2010-04-01 |
| publisher | Sultan Qaboos University |
| record_format | Article |
| series | Sultan Qaboos University Medical Journal |
| spelling | doaj.art-19ad2d7d91d04c28abc06f560bc9b78d2022-12-22T03:07:52ZengSultan Qaboos UniversitySultan Qaboos University Medical Journal2075-051X2075-05282010-04-011011111131388Oculocutaneous Albinism associated with Axenfeld’s Anomaly : Three case reportsB R Keshav0Mahmood J Mohammed1Nasir Mahmood2Department of Ophthalmology, Sur Hospital, OmanDepartment of Ophthalmology, Sur Hospital, OmanDepartment of Ophthalmology, Sur Hospital, OmanOculocutaneous albinism and anterior mesodermal dysgenesis are well-known heritable conditions, but their occurrence in association has only been rarely reported. We present cases of three siblings of a family with identical presentation suggesting that this association may be more than just a coincidence. This association is worth noting, as this could be one of the causes of ocular morbidity and poor vision in oculocutaneous albinism.https://journals.squ.edu.om/index.php/squmj/article/view/1460albinismoculocutaneousaxenfeld anomalyhereditaryconsanguinityassociation. |
| spellingShingle | B R Keshav Mahmood J Mohammed Nasir Mahmood Oculocutaneous Albinism associated with Axenfeld’s Anomaly : Three case reports Sultan Qaboos University Medical Journal albinism oculocutaneous axenfeld anomaly hereditary consanguinity association. |
| title | Oculocutaneous Albinism associated with Axenfeld’s Anomaly : Three case reports |
| title_full | Oculocutaneous Albinism associated with Axenfeld’s Anomaly : Three case reports |
| title_fullStr | Oculocutaneous Albinism associated with Axenfeld’s Anomaly : Three case reports |
| title_full_unstemmed | Oculocutaneous Albinism associated with Axenfeld’s Anomaly : Three case reports |
| title_short | Oculocutaneous Albinism associated with Axenfeld’s Anomaly : Three case reports |
| title_sort | oculocutaneous albinism associated with axenfeld s anomaly three case reports |
| topic | albinism oculocutaneous axenfeld anomaly hereditary consanguinity association. |
| url | https://journals.squ.edu.om/index.php/squmj/article/view/1460 |
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