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Table 1 Clinical details of the patients available for clinical evaluation

From: Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Patient Sex, Age (y) Skin Inguinal hernia Cardiovascular Pulmonary emphysema Other
   Aspect Topography Left (L)/Right (R)/Bilateral (B) (times surgery)    
   Trunk Axillar region Inguina region Limbs Neck Face    
F1:I-1 F, 84 Redundant + + +     L (1) - + Bilateral ptosis, sagging breasts, pelvic prolapse
F1:II-2 M, 59 Smooth, sagging, loose   + +   + + B (10). - + Pliant ears
F1:II-3 M, 57 Smooth, redundant sagging + +     + B (12) TVS ARD + Nycturia, decreased fertility
F1:II-4 M, 53 Sagging loose, sagging, redundant   + + + + + B (15) ARD (85mm – surgery), AR, MR + Umbilical hernia
Inguinal hernia surgery (13 times)
F1:II-5 F, 51 Sagging loose, sagging, redundant + + +   + + - - -  
F1:II-7 M, 46 Loose, sagging +     + + - - - Gastroesophageal reflux disease, strabismus
F1:III-1 F, 23 Sagging, loose, redundant + + +   +   B (2) - - Sagging breasts
F1:III-4 M, 22 Sagging +      + R (2) ARD - Gastroesophageal reflux disease, coarse face
F2:I-1 M, 48 Redundant   + +     - - + Hoarse voice, corrective skin surgery
F2:II-1 F, 21 Redundant   + +     B (0) MVP + Hoarse voice, corrective skin surgery (3 times)
F3:I-2 F, 31 Excessive, sagging + + + + + + - ARD -  
F3:II-1 M, 7 Excessive, sagging      + + - ARD - Hoarse voice
F3:II-2 M, 4 Excessive, sagging + + + + + + - Pulmonary artery dilatation Asthma Atopic dermatitis, hoarse voice
F4:II-1 M, 16 Redundant + + +    + - ARD   Coarse face
F4:II-2 M, 14 -       + - Dilated aortic arch (27mm)   Coarse face
F5:II-1 F, 14 Excessive, sagging + + + + + + - - - Labiae major coalescence
F5:II-2 M, 10 Excessive, sagging + + + + + + - AR - Testis ectopia
F5:II-3 F,7 Excessive, sagging + + + + + + - AR, Borderline ARD (23mm) -  
S1:II-2 M, 1 Excessive, sagging, + + +    + - ARD   
F6:II-1 M, 39 Redundant + +     + - AR, global increase of arterial diameter -  
  1. M, male; F, female; y, years; L, left; R, right; B, bilateral; AR, aortic valve regurgitation; ARD, aortic root dilatation; MVP, mitral valve prolapse; MR, mitral valve regurgitation; TVS, tricuspid valve stenosis. F1 to F6: familial cases, S1: sporadic case.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172