Skip to main content

Advertisement

Table 1 Clinical and Phenotypic features

From: Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

  CLINICAL PHENOTYPIC FEATURES
S. No Sex Age at diagnosis (Months) Birth order Consanguinity Family history Cutis laxa Hernia Prominent eyes Hypotonia Micrognathia Hypertelorism Long philtrum, thin vermillion Joint laxity Abnormal ears Broad forehead Thin, long digits Sagging cheeks Hooded eyes High arched palate Seizures
1 M 1.5 2 No Yes - - - + + - + - - - - - - + -
2 M 2 4 Yes No - - - - - + + - - + - - - - -
3 F 1.2 2 Yes No + - - + - + + - - - - - - - -
4 M 4 2 Yes No + + - + + + + - - + - + + - -
5 M 8 2 No No + + + + - + - - + - - + + + -
6 F 9 1 No No + + + + - + + + - - - + + + -
7 F 0.5 1 Yes No - - - - + - + - - - + - - - -
8 F 9 2 No Yes - - - - - + - + - - - - + - -
9 M 0.03 1 Yes No - - - - + - + - + - + - - - -
10 F 1.5 1 No No + - + - + - + + + - + + + + -
11 F 15 2 No No + - + - + - + - - + + + + - -
12 M 1.2 1 No No + - + - + + + - - - + + - + +
13 M 1 1 No No + - + - - - + - + - + - - - +
14 M 0.5 4 No Yes - - - - - - + - - - - - - - -
15 M 1.5 1 Yes No - - - - + - + - - - - - - - -
16 F 0.03 1 Yes No NA NA NA NA NA NA NA NA NA NA NA NA NA NA -
17 F 2 1 No No + - + - - + + - - + + - - + -
18 F 6 2 No Yes - - - + - + + - - - + + - - -
19 F 17 4 Yes Yes + + - + - + + + - - - - - - -
20 F 12 1 No No - - - + - - + + - + - - - + -
21 M 0.9 1 No No + - + + - + + - - + + + - + +
22 M 0.5 1 No No - - + - + + + + - - + + - - +