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.

Bibliographic Details
Main Authors: Sinéad Lally, Nicola Walsh, Janna Kenny, Orla Franklin, Melanie Cotter, Sarah Richardson, Fiona McEligott, Alan Finan
Format: Article
Language:English
Published: Wiley 2022-09-01
Series:Clinical Case Reports
Subjects:
Online Access:https://doi.org/10.1002/ccr3.6291