Skip to main content
. 2019 Nov 27;20:188. doi: 10.1186/s12881-019-0921-9

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