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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.