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Table 2 Demographic information of all reported cases of FPS-related syndromes
| Sex | Age at last exam | Age of death | Cause of death | Gene confirmation of SLC25A24 mutations | ||
|---|---|---|---|---|---|---|
| Gorlin-Chaudhry-Moss syndrome (GCMS) | Gorlin et al. (1960) [1] | F | 10 years | |||
| F | 8 years | |||||
| Ippel et al. (1992) [2] | F | 4 years | ||||
| F | 33 years | |||||
| Aravena et al. (2011) [3] | F | 5 months | pneumonia | |||
| F | 18 months | pneumonia | ||||
| Rosti et al. (2013) [4] | F | 4 years | ||||
| Ehmke et al. (2017) [9] | F | 5.5 years | + | |||
| F | 7 years | + | ||||
| F | 5 years | + | ||||
| F | 20 months | urinary tract infection | + | |||
| F | 14 years | + | ||||
| Our patient (2018) | F | 9 years | + | |||
| Fontaine-Farriaux syndrome (FFS) | Fontaine et al. (1977) [5] | M | 3 months | unknown | ||
| Faivre et al. (1999) [6] | F | 7 months | sepsis | + | ||
| Rodriguez et al. (1999) [7] | F | 7 h | respiratory distress | + | ||
| Castori et al. (2009) [8] | M | 20 h | respiratory distress | + | ||
| Writzl et al. (2017) [10] | M | 6 months | cardiorespiratory arrest | + | ||
| Rodriguez et al. (2018) [12] | M | 15 years | + | |||
| Petty-Laxova-Wiedemann syndrome (PLWS) | Petty et al. (1990) [15] | F | 45 years | |||
| F | 5 years | |||||
| Delgado et al. (2009) [16] | M | 10 years | ||||
| Braddock et al. (2010) [17] | F | 7 months | respiratory failure | |||
| M | 23 months | sepsis |
