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Table 1 Clinical, molecular and biochemical characterization of 15 new EDS VIA patients.

From: Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

  P1 P2 P3 P4a P4b P5 P6 P7a P7b P7c P8 P9 P10 P11 P12
Sex M M F M M M F F F M M M F F F
Age at diagnosis 9 m 27 y 14 y 4 y 6 m 9 y 5 m 15 m 14 m 13 m 19 m 16 y 16 y 18 m 8 m
Ethnicity Mazedonia Serbia Iran Turkey Turkey Turkey Netherland Somalia Somalia Somalia Turkey Turkey Spain Turkey Iraqui
Consanguinity + - + + + + - + + + + + + + +
Urinary LP/HP # 8.16 5.47 5.59 4.02 9.5 5.15 8.48 8.32 9.03 not done 6.98 6.1 6.51 6.6 7.8
PLOD1 mutation Dup/Dup p.L85P/p.L85P * c.1471-1 G > A/
c.1471-1 G > A*
Dup/Dup Dup/Dup c.1095C > T/
c.1095C > T*
c.1651-2 A > G/
c.1651-2 A > G*
p.G678R/p.G678R p.G678R/
p.G678R
p.G678R/
p.G678R
DNA not available p.Q345X/
p.Q345X*
c.466+ 1G > A/
c.466+ 1G > A*
DNA not available p.Trp419leufsX48*/
p.Trp419leufsX48*
muscular hypotonia at birth + - + + + + + + + + + + + + +
Kyphoscoliosis at birth + - + + + + + + - - + + - + +
Marfanoid habitus + + + + + + + + + - - + - - +
Delayed gross motor development + - + + + + + + + + + + + + +
delayed cognitive development - - - - - - - - - - + + + + +
Rupture of artery - + - - - - - - - - - - - - +
Smooth velvety skin + + + + + + + + + + + + + + +
Extensibel fragile skin - - + ? ? + + ? + + + ? + ? +
Joint laxity + + + + + + ? + + + + + + + +
Hip dislocation at birth + - + - - + - - - - + - - - +
Neuromuscular workup + - - - - + - + - - + - + + -
Independent walking at age 2 y 1.5 y 4 y ? ? ? 2 y n.a. ° 2 y n.a n.a 2 y ° °
*newly described mutation                
  1. +, Finding present; -, finding absent; ? no information available,; °, patient < 24 months at last exam; n.a, not able to; m, month and y, year and # LP/HP in normal control: 0.20 ± 0.05 (range 0.10-0.38); *, newly described mutation; §, common duplication of exon 10 to exon 16.