Fraser Syndrome: A Rare Case Report
Fraser syndrome is a rare, autosomal recessive condition. It is characterized by cryptophthalmos, syndactyly, craniofacial dysmorphism, laryngeal and genitourinary malformations, and musculoskeletal anomalies. We report a case of a neonate who presented with multiple congenital abnormalities and cl...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Karnali Academy of Health Sciences
2022-12-01
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| Series: | Journal of Karnali Academy of Health Sciences |
| Subjects: | |
| Online Access: | http://jkahs.org.np/jkahs/index.php/jkahs/article/view/753 |
| _version_ | 1797643872205012992 |
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| author | Sandeep Shrestha Kamal Prasad Thani Munna Keshari Annie Shrestha |
| author_facet | Sandeep Shrestha Kamal Prasad Thani Munna Keshari Annie Shrestha |
| author_sort | Sandeep Shrestha |
| collection | DOAJ |
| description |
Fraser syndrome is a rare, autosomal recessive condition. It is characterized by cryptophthalmos, syndactyly, craniofacial dysmorphism, laryngeal and genitourinary malformations, and musculoskeletal anomalies. We report a case of a neonate who presented with multiple congenital abnormalities and clinical features suggestive of Fraser syndrome.
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| first_indexed | 2024-03-11T14:22:17Z |
| format | Article |
| id | doaj.art-64f0db3fafbc4439ae8d71fdb9124945 |
| institution | Directory Open Access Journal |
| issn | 2616-0064 2676-1327 |
| language | English |
| last_indexed | 2024-03-11T14:22:17Z |
| publishDate | 2022-12-01 |
| publisher | Karnali Academy of Health Sciences |
| record_format | Article |
| series | Journal of Karnali Academy of Health Sciences |
| spelling | doaj.art-64f0db3fafbc4439ae8d71fdb91249452023-10-31T15:40:34ZengKarnali Academy of Health SciencesJournal of Karnali Academy of Health Sciences2616-00642676-13272022-12-0153Fraser Syndrome: A Rare Case ReportSandeep Shrestha0Kamal Prasad ThaniMunna KeshariAnnie ShresthaDepartment of Paediatrics & Neonatology, Karnali Academy of Health Sciences, Jumla, Karnali Fraser syndrome is a rare, autosomal recessive condition. It is characterized by cryptophthalmos, syndactyly, craniofacial dysmorphism, laryngeal and genitourinary malformations, and musculoskeletal anomalies. We report a case of a neonate who presented with multiple congenital abnormalities and clinical features suggestive of Fraser syndrome. http://jkahs.org.np/jkahs/index.php/jkahs/article/view/753CryptophthalmosFraser SyndromeNeonateSyndactyly |
| spellingShingle | Sandeep Shrestha Kamal Prasad Thani Munna Keshari Annie Shrestha Fraser Syndrome: A Rare Case Report Journal of Karnali Academy of Health Sciences Cryptophthalmos Fraser Syndrome Neonate Syndactyly |
| title | Fraser Syndrome: A Rare Case Report |
| title_full | Fraser Syndrome: A Rare Case Report |
| title_fullStr | Fraser Syndrome: A Rare Case Report |
| title_full_unstemmed | Fraser Syndrome: A Rare Case Report |
| title_short | Fraser Syndrome: A Rare Case Report |
| title_sort | fraser syndrome a rare case report |
| topic | Cryptophthalmos Fraser Syndrome Neonate Syndactyly |
| url | http://jkahs.org.np/jkahs/index.php/jkahs/article/view/753 |
| work_keys_str_mv | AT sandeepshrestha frasersyndromeararecasereport AT kamalprasadthani frasersyndromeararecasereport AT munnakeshari frasersyndromeararecasereport AT annieshrestha frasersyndromeararecasereport |