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

Ryu, Jaehui; Ko, Jung Min; Shin, Choong-Ho

doi:10.1186/s12881-019-0921-9

Table 1 Clinical manifestations in our patient and previously reported cases of FPS

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

	Our study	Individual 1^a	Individual 2^a	Individual 3^a	Individual 4^a	Individual 5^a	Individual 6^b	Individual 7^b	Individual 8^b	Individual 9^b	Individual 10^c	Total
SLC25A24 mutation	c.650G > A (p.Arg217His)	c.650G > A (p.Arg217His)	c.650G > A (p.Arg217His)	c.650G > A (p.Arg217His)	c.650G > A (p.Arg217His)	c.649G > T (p.Arg217Cys)	c.650G > A (p.Arg217His)	c.650G > A (p.Arg217His)	c.649G > T (p.Arg217Cys)	c.650G > A (p.Arg217His)	c.650G > A (p.Arg217His)	c.650G > A: c.649G > T = 9: 2
Mutation type	heterozygous, de novo	heterozygous, de novo	heterozygous, de novo	heterozygous, de novo	heterozygous, de novo	heterozygous, de novo	heterozygous, de novo	heterozygous, de novo	heterozygous, de novo	heterozygous, de novo	heterozygous, de novo
Sub-clinical classification	GCMS	GCMS	GCMS	GCMS	GCMS	GCMS	FFS	FFS	FFS	FFS	FFS
Sex	female	female	female	female	female	female	male	female	female	male	male	M: F = 3: 8
Ethnicity	Korean	Polish	Hungarian	German	Turkish	Northern European	Slovene	French	Spanish	Italian	Spanish
Age at last exam (or age at death)	9 years	5.5 years	7 years	5 years	(20 months)	14 years	(6 months)	(7 months)	(7 h)	(20 h)	15 years	9.3 ± 4.3 years (6.6 ± 8.2 months)
Gestational age	32 weeks	39 weeks	36 weeks	38 weeks	39 weeks	37 weeks	34 weeks	38 weeks	35 weeks	32 weeks	35 weeks	35.9 ± 2.5 weeks
IUGR	+	+	–	+	+	+	+	+	+	+	+	9/11 (82%)
Birth weight	1080 g	2200 g	2225 g	1600 g	1700 g	1722 g	1390 g	1700 g	800 g	866 g	1450 g	1521.2 ± 472.5 g
HC at birth	NK	28 cm	NK	29 cm	29.4 cm	NK	29 cm	28.5 cm	25.9 cm	23 cm	28 cm	27.6 ± 2.1 cm
Aged appearance	+	+	+	+	+	+	+	+	+	+	+	11/11 (100%)
Short stature	+	+	–	+	+	+	+	+	+	+	+	9/11 (82%)
Wrinkled and translucent skin	+	+	+	+	+	+	+	+	+	+	+	11/11 (100%)
Hypertrichosis	+	+	+	+	+	+	NK	NK	NK	+	+	8/8 (100%)
Coronal craniosynostosis	+	+	+	+	+	NK	+	NK	NK	+	+	8/8 (100%)
Brachycephaly	+	+	+	+	+	+	NK	NK	+	NK	–	7/8 (88%)
Large anterior fontanel	+	+	–	+	+	–	+	+	+	+	+	9/11 (82%)
Triangular face	+	+	NK	–	+	NK	+	+	+	+	+	8/9 (89%)
Midface hypoplasia	+	+	+	+	+	+	–	–	NK	NK	+	7/9 (78%)
Depressed nasal bridge	+	+	+	+	+	+	+	+	+	+	–	10/11 (91%)
Low hairlines	+	+	+	+	+	+	+	+	+	+	+	11/11 (100%)
Low set, dysplastic ears	+	–	+	+	+	+	+	+	+	+	+	10/11 (91%)
Micropthalmia	+	+	+	+	+	+	+	+	+	+	+	10/11 (91%)
Downslanting palpebral fissure	+	+	+	+	+	+	NK	NK	NK	NK	–	6/7 (86%)
Prognathia	+	+	+	–	+	+	NK	NK	NK	NK	+	6/7 (86%)
Short distal phalanges	+	–	–	+	+	+	+	+	+	+	+	9/11 (82%)
Hypoplastic nails	+	+	–	+	+	+	+	+	+	+	+	10/11 (91%)
Syndactyly	+	–	+	+	–	+	NK	NK	NK	–	–	4/8 (50%)
Cardiovascular abnormalities	+	NK	NK	+	+	+	+	+	–	–	+	7/8 (75%)
Hypoplastic external genitalia	–	+	+	+	+	+	–	NK	+	+	+	8/10 (89%)
Cryptorchidism	NA	NA	NA	NA	NA	NA	+	NA	NA	+	+	3/3 (100%)
Umbilical hernia	+	+	–	+	+	+	+	+	–	+	+	9/11 (82%)
Conductive hearing loss	+	–	–	+	+	+	NA	NA	NA	NA	NK	4/6 (67%)
Normal developmental outcome	+	+	+	+^d	+	+^d	NA	+	NA	NA	+	8/8 (100%)

Abbreviations: +, present; −, not present; HC Head circumference, IUGR Intrauterine growth retardation, NA Not applicable, NK Not known;
^aEhmke et al. [9]
^bWritzl et al. [10]
^CRodriguez et al. (2018) [12]
^dDelayed motor development due to muscle weakness

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ISSN: 1471-2350

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