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Table 1 Summary of clinical profile of patients

From: Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

  1 2* 3* 4* 5 6 7 10 11 12 13 14
Gender M F M M M F M M F M F M M M
Age (years) 27 42 15 12 42 19 12 30 2 15 25 18 14 27
Aortic               
   Root dilatation (Z ≥ 2) + + + + + + + + +/- + - + + +
   Ao root surgery - + - - + - - - - - - - - -
   Aneurysm - + - - - - - - - + + - - -
   Dissection      - - -    - + - - -
   Tortuosity      + - -    - - - - -
Cardiac               
   Mitral valve prolapse + - - - - + - - - - - + - +
   Valve (other) + + + + - + - + - - - + - -
   Cardiac (other) - - - - - - - - + - + - - -
Ophthalmologic               
   Ectopia lentis - - + - - - - - - - - - - -
Skeletal               
   Pectus carinatum + + - - + + - - - + - - - -
   Pectus excavatum + + + + - - + - - - - - - +
   Reduced US/LS + + + + + + - - - - - - - +
   Increased arm/height - - - - + + + - - - - - - -
   Scoliosis - - - - + - - - - + - - - -
   Thoracolumbar kyphosis - - - + - - - - - - - - + +
   Protrusio acetabuli - - - - - - + - - + - - - -
   Pes planus - - - - - - - - - - - - - -
   Hindfoot deformity + - + + - + - - - - - - + +
   ↓ elbow extension      +   - -   - - -   
   Wrist/thumb signs               
   Dural ectasia               
Craniofacial               
   Hypertelorism - - - + - - - + - - - - - -
   Bifid/broad uvula - - - - - - - + - - - - - -
   Palate anomaly - + - + - - - + - - - - - -
   Microretrognathia + - - - - - - + - - - + - -
   Dolicocephalia - - - - - - - - - - - - - -
   Craniosynostosis - - - - - - - - - - - - - -
   Other - - - - - - - - - - - -   
Skin               
   Striae + - + - + + - - - - - - - +
   Thin and velvety skin - - - - - - - -   - - - - -
   Easy bruising - - - - - -   -    - - + -
Family History + + + + + - + + + + + + - -
Ghent + + + + + - - - - - - - - +
FBN1 sequencing Neg Neg Neg Neg Neg Neg Neg Neg Neg Neg Neg Neg Neg Neg
TGFβR1/2 sequencing Neg Neg Neg Neg Neg Neg Neg Neg Neg Neg Neg Neg Neg Neg
  1. Abbreviations:
  2. * Related patients: patient 2 = mother; patients 3 and 4 = sons.
  3. § Related patients: patient 8 = father; patient 9 = daughter.
  4. +: present; -: absent; blank spaces: information not available
  5. Neg: Negative