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Fontaine Progeroid Syndrome -- A Case Report
  • +5
  • Sinead Lally,
  • Nicola Walsh,
  • Janna Kenny,
  • Orla Franklin,
  • Melanie Cotter,
  • Sarah Richardson,
  • Fiona McElligott,
  • Alan Finan
Sinead Lally
Cavan Monaghan Hospital
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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:UNDER REVIEW

13 Sep 2021Submitted to Clinical Case Reports
23 Sep 2021Assigned to Editor
23 Sep 2021Submission Checks Completed
01 Dec 2021Reviewer(s) Assigned
08 Jan 2022Review(s) Completed, Editorial Evaluation Pending