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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

8§

9§

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
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BMC Medical Genetics

ISSN: 1471-2350

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