Skip to main content

Table 2 Demographic information of all reported cases of FPS-related syndromes

From: A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up

  SexAge at last examAge of deathCause of deathGene confirmation of SLC25A24 mutations
Gorlin-Chaudhry-Moss syndrome (GCMS)Gorlin et al. (1960) [1]F10 years   
F8 years   
Ippel et al. (1992) [2]F4 years   
F33 years   
Aravena et al. (2011) [3]F 5 monthspneumonia 
F 18 monthspneumonia 
Rosti et al. (2013) [4]F4 years   
Ehmke et al. (2017) [9]F5.5 years  +
F7 years  +
F5 years  +
F 20 monthsurinary tract infection+
F14 years  +
Our patient (2018)F9 years  +
Fontaine-Farriaux syndrome (FFS)Fontaine et al. (1977) [5]M 3 monthsunknown 
Faivre et al. (1999) [6]F 7 monthssepsis+
Rodriguez et al. (1999) [7]F 7 hrespiratory distress+
Castori et al. (2009) [8]M 20 hrespiratory distress+
Writzl et al. (2017) [10]M 6 monthscardiorespiratory arrest+
Rodriguez et al. (2018) [12]M15 years  +
Petty-Laxova-Wiedemann syndrome (PLWS)Petty et al. (1990) [15]F45 years   
F5 years   
Delgado et al. (2009) [16]M10 years   
Braddock et al. (2010) [17]F 7 monthsrespiratory failure 
M 23 monthssepsis