Ocular manifestations of Fraser syndrome in children. A clinical case
A clinical case of rare genetic disease, Fraser syndrome, in a 1.5-month-old infant is presented. Fraser syndrome is a congenital pathology characterized by diverse clinical symptoms, which involves a combination of acrofacial and urogenital abnormalities and may be accompanied by cryptophtalmos (an...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | Russian |
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Real Time Ltd
2021-09-01
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| Series: | Российский офтальмологический журнал |
| Subjects: | |
| Online Access: | https://roj.igb.ru/jour/article/view/726 |
| _version_ | 1797878270541168640 |
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| author | T. V. Sudovskaya L. V. Kogoleva T. N. Kiseleva A. N. Bedretdinov |
| author_facet | T. V. Sudovskaya L. V. Kogoleva T. N. Kiseleva A. N. Bedretdinov |
| author_sort | T. V. Sudovskaya |
| collection | DOAJ |
| description | A clinical case of rare genetic disease, Fraser syndrome, in a 1.5-month-old infant is presented. Fraser syndrome is a congenital pathology characterized by diverse clinical symptoms, which involves a combination of acrofacial and urogenital abnormalities and may be accompanied by cryptophtalmos (anophthalmos or microphthalmos). A complex clinical and instrumental examination of the infant revealed the following ophthalmic manifestation of the Fraser syndrome: congenital abnormalities of eyelids, reduced palpebral fissures, significant reduction of the conjunctival sac, microcornea, vitreous fibrosis and retinal detachment. Non-surgical treatment and rehabilitation of infants with congenital microphthalmos consists in stepwise ocular prosthetics. |
| first_indexed | 2024-04-10T02:30:00Z |
| format | Article |
| id | doaj.art-1e0a5e6482c34f3db312bdb82330f15c |
| institution | Directory Open Access Journal |
| issn | 2072-0076 2587-5760 |
| language | Russian |
| last_indexed | 2024-04-10T02:30:00Z |
| publishDate | 2021-09-01 |
| publisher | Real Time Ltd |
| record_format | Article |
| series | Российский офтальмологический журнал |
| spelling | doaj.art-1e0a5e6482c34f3db312bdb82330f15c2023-03-13T07:54:31ZrusReal Time LtdРоссийский офтальмологический журнал2072-00762587-57602021-09-01143939610.21516/2072-0076-2021-14-3-93-96381Ocular manifestations of Fraser syndrome in children. A clinical caseT. V. Sudovskaya0L. V. Kogoleva1T. N. Kiseleva2A. N. Bedretdinov3ФГБУ «НМИЦ глазных болезней им. Гельмгольца» Минздрава РоссииФГБУ «НМИЦ глазных болезней им. Гельмгольца» Минздрава РоссииФГБУ «НМИЦ глазных болезней им. Гельмгольца» Минздрава РоссииФГБУ «НМИЦ глазных болезней им. Гельмгольца» Минздрава РоссииA clinical case of rare genetic disease, Fraser syndrome, in a 1.5-month-old infant is presented. Fraser syndrome is a congenital pathology characterized by diverse clinical symptoms, which involves a combination of acrofacial and urogenital abnormalities and may be accompanied by cryptophtalmos (anophthalmos or microphthalmos). A complex clinical and instrumental examination of the infant revealed the following ophthalmic manifestation of the Fraser syndrome: congenital abnormalities of eyelids, reduced palpebral fissures, significant reduction of the conjunctival sac, microcornea, vitreous fibrosis and retinal detachment. Non-surgical treatment and rehabilitation of infants with congenital microphthalmos consists in stepwise ocular prosthetics.https://roj.igb.ru/jour/article/view/726синдром фрейзераврожденный микрофтальмреабилитация детей с врожденным микрофтальмом |
| spellingShingle | T. V. Sudovskaya L. V. Kogoleva T. N. Kiseleva A. N. Bedretdinov Ocular manifestations of Fraser syndrome in children. A clinical case Российский офтальмологический журнал синдром фрейзера врожденный микрофтальм реабилитация детей с врожденным микрофтальмом |
| title | Ocular manifestations of Fraser syndrome in children. A clinical case |
| title_full | Ocular manifestations of Fraser syndrome in children. A clinical case |
| title_fullStr | Ocular manifestations of Fraser syndrome in children. A clinical case |
| title_full_unstemmed | Ocular manifestations of Fraser syndrome in children. A clinical case |
| title_short | Ocular manifestations of Fraser syndrome in children. A clinical case |
| title_sort | ocular manifestations of fraser syndrome in children a clinical case |
| topic | синдром фрейзера врожденный микрофтальм реабилитация детей с врожденным микрофтальмом |
| url | https://roj.igb.ru/jour/article/view/726 |
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