Fontaine progeroid syndrome—A case report

Abstract

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.

Keywords

• anal prolapse
• brachycephaly
• craniosynostosis
• cryptorchidism
• deficient endochondral ossification
• delayed bone age