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...
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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 |
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| Online Access: | https://roj.igb.ru/jour/article/view/726 |
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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. |
| format | Article |
| id | doaj-art-1e0a5e6482c34f3db312bdb82330f15c |
| institution | Matheson Library |
| issn | 2072-0076 2587-5760 |
| language | Russian |
| publishDate | 2021-09-01 |
| publisher | Real Time Ltd |
| record_format | Article |
| series | Российский офтальмологический журнал |
| spelling | doaj-art-1e0a5e6482c34f3db312bdb82330f15c2025-08-03T19:22:34ZrusReal 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. Bedretdinov3Helmholtz National Medical Research Center of Eye DiseasesHelmholtz National Medical Research Center of Eye DiseasesHelmholtz National Medical Research Center of Eye DiseasesHelmholtz National Medical Research Center of Eye DiseasesA 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/726fraser syndromecongenital microphthalmosrehabilitation of infants with congenital microphthalmos |
| 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 fraser syndrome congenital microphthalmos rehabilitation of infants with congenital microphthalmos |
| 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 | fraser syndrome congenital microphthalmos rehabilitation of infants with congenital microphthalmos |
| url | https://roj.igb.ru/jour/article/view/726 |
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