Skip to main content

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 studyIndividual 1aIndividual 2aIndividual 3aIndividual 4aIndividual 5aIndividual 6bIndividual 7bIndividual 8bIndividual 9bIndividual 10cTotal
SLC25A24 mutationc.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 typeheterozygous,
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 classificationGCMSGCMSGCMSGCMSGCMSGCMSFFSFFSFFSFFSFFS 
SexfemalefemalefemalefemalefemalefemalemalefemalefemalemalemaleM: F = 3: 8
EthnicityKoreanPolishHungarianGermanTurkishNorthern EuropeanSloveneFrenchSpanishItalianSpanish 
Age at last exam (or age at death)9 years5.5 years7 years5 years(20 months)14 years(6 months)(7 months)(7 h)(20 h)15 years9.3 ± 4.3 years (6.6 ± 8.2 months)
Gestational age32 weeks39 weeks36 weeks38 weeks39 weeks37 weeks34 weeks38 weeks35 weeks32 weeks35 weeks35.9 ± 2.5 weeks
IUGR++++++++++9/11 (82%)
Birth weight1080 g2200 g2225 g1600 g1700 g1722 g1390 g1700 g800 g866 g1450 g1521.2 ± 472.5 g
HC at birthNK28 cmNK29 cm29.4 cmNK29 cm28.5 cm25.9 cm23 cm28 cm27.6 ± 2.1 cm
Aged appearance+++++++++++11/11 (100%)
Short stature++++++++++9/11 (82%)
Wrinkled and translucent skin+++++++++++11/11 (100%)
Hypertrichosis++++++NKNKNK++8/8 (100%)
Coronal craniosynostosis+++++NK+NKNK++8/8 (100%)
Brachycephaly++++++NKNK+NK7/8 (88%)
Large anterior fontanel+++++++++9/11 (82%)
Triangular face++NK+NK+++++8/9 (89%)
Midface hypoplasia++++++NKNK+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
++++++NKNKNKNK6/7 (86%)
Prognathia+++++NKNKNKNK+6/7 (86%)
Short distal phalanges+++++++++9/11 (82%)
Hypoplastic nails++++++++++10/11 (91%)
Syndactyly++++NKNKNK4/8 (50%)
Cardiovascular abnormalities+NKNK++++++7/8 (75%)
Hypoplastic external genitalia+++++NK+++8/10 (89%)
CryptorchidismNANANANANANA+NANA++3/3 (100%)
Umbilical hernia+++++++++9/11 (82%)
Conductive hearing loss++++NANANANANK4/6 (67%)
Normal developmental outcome++++d++dNA+NANA+8/8 (100%)
  1. Abbreviations: +, present; −, not present; HC Head circumference, IUGR Intrauterine growth retardation, NA Not applicable, NK Not known;
  2. aEhmke et al. [9]
  3. bWritzl et al. [10]
  4. CRodriguez et al. (2018) [12]
  5. dDelayed motor development due to muscle weakness