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: Fontaine progeroid syndrome; Gorlin Chaudry—Moss Syndrome; SLC25A24 gene; anal prolapse; brachycephaly; craniosynostosis; cryptorchidism; deficient endochondral ossification; delayed bone age; high arched palate; hypertrichosis; large anterior fontanelle; laterally up slanting eyebrows; low bone density; microdontia; midface hypoplasia; oligodontia; poor skull ossification; progeroid appearance; short/absent distal phalanges of hands and feet; syndactyly; umbilical hernia; wrinkled skin.
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