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Fontaine Progeroid Syndrome -- A Case Report
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  • Sinead Lally,
  • Nicola Walsh,
  • Janna Kenny,
  • Orla Franklin,
  • Melanie Cotter,
  • Sarah Richardson,
  • Fiona McElligott,
  • Alan Finan
Sinead Lally
Cavan Monaghan Hospital

Corresponding Author:[email protected]

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Nicola Walsh
Children's Health Ireland at Crumlin
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Janna Kenny
Children's Health Ireland at Crumlin
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Orla Franklin
Children's Health Ireland at Crumlin
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Melanie Cotter
Children's Health Ireland at Crumlin
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Sarah Richardson
Children's Health Ireland at Temple Street
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Fiona McElligott
Children's Health Ireland at Temple Street
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Alan Finan
Cavan Monaghan Hospital
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Abstract

Fontaine Progeroid Syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene located on chromosome 1. 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.

Peer review status:Published

13 Sep 2021Submitted to Clinical Case Reports
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23 Sep 2021Submission Checks Completed
23 Sep 2021Assigned to Editor
01 Dec 2021Reviewer(s) Assigned
08 Jan 2022Review(s) Completed, Editorial Evaluation Pending
22 Mar 2022Editorial Decision: Revise Minor
09 Jun 20221st Revision Received
10 Jun 2022Submission Checks Completed
10 Jun 2022Assigned to Editor
10 Jun 2022Review(s) Completed, Editorial Evaluation Pending
17 Jul 2022Editorial Decision: Accept
Sep 2022Published in Clinical Case Reports volume 10 issue 9. 10.1002/ccr3.6291