Fontaine progeroid syndrome—A case report.
- Resource Type
- Case Study
- Authors
- Lally, Sinéad; Walsh, Nicola; Kenny, Janna; Franklin, Orla; Cotter, Melanie; Richardson, Sarah; McEligott, Fiona; Finan, Alan
- Source
- Clinical Case Reports. Sep2022, Vol. 10 Issue 9, p1-6. 6p.
- Subject
- *SYNDROMES
*WRINKLES (Skin)
*ENDOCHONDRAL ossification
*BONE density
*RECTAL prolapse
- Language
- ISSN
- 2050-0904
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. [ABSTRACT FROM AUTHOR]