Fontaine progeroid syndrome—A case report
Abstract Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months.
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-09-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.6291 |
| _version_ | 1811208281455067136 |
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| author | Sinéad Lally Nicola Walsh Janna Kenny Orla Franklin Melanie Cotter Sarah Richardson Fiona McEligott Alan Finan |
| author_facet | Sinéad Lally Nicola Walsh Janna Kenny Orla Franklin Melanie Cotter Sarah Richardson Fiona McEligott Alan Finan |
| author_sort | Sinéad Lally |
| collection | DOAJ |
| description | Abstract Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months. |
| first_indexed | 2024-04-12T04:19:12Z |
| format | Article |
| id | doaj.art-bbd58125f08441ee9a395bf4fa535dca |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-04-12T04:19:12Z |
| publishDate | 2022-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-bbd58125f08441ee9a395bf4fa535dca2022-12-22T03:48:17ZengWileyClinical Case Reports2050-09042022-09-01109n/an/a10.1002/ccr3.6291Fontaine progeroid syndrome—A case reportSinéad Lally0Nicola Walsh1Janna Kenny2Orla Franklin3Melanie Cotter4Sarah Richardson5Fiona McEligott6Alan Finan7Department of Paediatrics Cavan Monaghan Hospital, RCSI Hospital Group Cavan IrelandDepartment of Clinical Genetics Children's Health Ireland at Crumlin Dublin 12 IrelandDepartment of Clinical Genetics Children's Health Ireland at Crumlin Dublin 12 IrelandDepartment of Paediatric Cardiology, Children's Health Ireland at Crumlin Dublin 12 IrelandDepartment of Haematology Children's Health Ireland at Crumlin Dublin 12 IrelandDepartment of Paediatrics Children's Health Ireland at Temple Street Dublin 1 IrelandDepartment of Palliative Medicine Children's Health Ireland at Temple Street Dublin 1 IrelandDepartment of Paediatrics Cavan Monaghan Hospital, RCSI Hospital Group Cavan IrelandAbstract Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months.https://doi.org/10.1002/ccr3.6291anal prolapsebrachycephalycraniosynostosiscryptorchidismdeficient endochondral ossificationdelayed bone age |
| spellingShingle | Sinéad Lally Nicola Walsh Janna Kenny Orla Franklin Melanie Cotter Sarah Richardson Fiona McEligott Alan Finan Fontaine progeroid syndrome—A case report Clinical Case Reports anal prolapse brachycephaly craniosynostosis cryptorchidism deficient endochondral ossification delayed bone age |
| title | Fontaine progeroid syndrome—A case report |
| title_full | Fontaine progeroid syndrome—A case report |
| title_fullStr | Fontaine progeroid syndrome—A case report |
| title_full_unstemmed | Fontaine progeroid syndrome—A case report |
| title_short | Fontaine progeroid syndrome—A case report |
| title_sort | fontaine progeroid syndrome a case report |
| topic | anal prolapse brachycephaly craniosynostosis cryptorchidism deficient endochondral ossification delayed bone age |
| url | https://doi.org/10.1002/ccr3.6291 |
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