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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

-

-

+

-

+

+

+

+

-

-

+

+

-

-

+