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Table 2 Comparison of clinical findings between the current study and those of Boileau et al.[17], Lindsay et al.[16], Renard et al.[18], and Leutermann et al.[19]

From: Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation

   

Frequencya

Clinical features

Proband

Daughter

Boileau et al.[17]

Lindsay et al.[16]

Renard et al.[18]

Leutermann et al.[19]

Total/percentage

Cardiovascular

       

TAA or MPA

-

-c

14/19

1/4 (11)

4/6

2/2 (1)

21/32 (13) 65%

Aortic dissection

-

-

2/19

1/15

2/6

0/3

5/45 11%

Aortic repair

-

-

4/19

3/15

0/6

2/3

9/45 20%

Arterial tortuosity

+

N.A.

3/5 (14)

1/4 (11)

1/1 (5d)

2/2 (1)

8/13 (32) 61.5%

MV impaired

+

+

3/19

7/10 (5)

4/6

0/2 (1)

16/39 (6) 41%

Skeletal

       

Tall statureb

-

+

8/19

11/15

N.A.

2/2 (1)

22/38 (7) 58%

Pectus deformities

-

+

7/16 (3)

9/15

2/6

1/3

20/42 (3) 47.6%

Arachnodactyly

-

+

8/13 (6)

8/15

2/6

0/2 (1)

19/38 (7) 50%

Joint hypermobility

+ (BS 9/9)

+ (BS 6/9)

10/15 (4)

7/15 (BS > 5/9)

4/6

2/3

23/41 (4) 56%

Chronic Pain

+

+

N.A.

N.A.

N.A.

N.A.

2/2 (43)

Scoliosis

+

+

4/15 (4)

5/15

1/6

3/3

15/41 (4) 36.5%

Pes planus

-

-

11/15 (4)

8/15

1/6

2/2 (1)

22/40 (5) 55%

Club feet

-

-

0/15 (4)

5/15

1/6

0/2 (1)

6/40 (5) 15%

High arched palate

+

+

9/15 (4)

10/15

2/6

1/2 (1)

24/40 (5) 60%

Cutaneous

       

Hyperelastic skin

+

+

0/13 (6)

N.A.

N.A.

N.A.

2/15 (30) 13%

Defective scaring

-

+

N.A.

2/15

1/6

0/2 (1)

4/25 (20) 16%

Easy bruising

+

+

N.A.

5/11 (4)

N.A.

0/2 (1)

7/15 (30) 46.6%

Striae distensae

+

-

8/15 (4)

3/15

1/6

0/2 (1)

13/40 (5) 32.5%

Hernia

+

-

6/17 (2)

10/15

N.A.

2/2 (1)

19/36 (9) 52.7%

Other

       

Dural ectasia

+

N.A.

3/5 (14)

1/6 (9)

N.A.

0/2 (1)

5/14 (31) 35.7%

  1. aFeature present/number of evaluated patients; in parenthesis number of patients with no data available; b(>95th centile); cat aortic root level, ectasia and/or aneurysm of ascending aorta, aortic arch and pulmonary artery were not ascertained; dit is unclear whether these 5 patients were investigated. BS: Beighton score; N.A. not analyzed; MV: mitral valve; TAA: thoracic aortic aneurysm; MPA: main pulmonary artery aneurysm.