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

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
	Gorlin et al. (1960) [1]	F	8 years
	Ippel et al. (1992) [2]	F	4 years
	Ippel et al. (1992) [2]	F	33 years
	Aravena et al. (2011) [3]	F		5 months	pneumonia
	Aravena et al. (2011) [3]	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
	Petty et al. (1990) [15]	F	5 years
	Delgado et al. (2009) [16]	M	10 years
	Braddock et al. (2010) [17]	F		7 months	respiratory failure
	Braddock et al. (2010) [17]	M		23 months	sepsis

ISSN: 1471-2350