A score for systemic findings was proposed at the Ghent conference in 2009. The authors are from multiple institutions in Europe and the United States.
Parameters:
(1) wrist sign
(2) thumb sign
(3) pectus carinatum deformity, pectus excavatum or chest asymmetry
(4) hindfoot deformity
(5) pes planus (plain flat foot)
(6) pneumothorax
(7) dural ectasia
(8) protrusio acetabuli
(9) body span ratios (upper to lower segments, arm span to height)
(10) scoliosis or thoracolumbar kyphosis
(11) elbow extension
(12) facial features (out of 5: dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia)
(13) abnormal skin striae
(14) myopia (> 3 diopters)
(15) mitral valve prolapse
|
Parameter |
Finding |
Points |
|
wrist and thumb signs |
both |
3 |
|
|
one |
1 |
|
|
none |
0 |
|
chest deformities |
pectus carinatum |
2 |
|
|
pectus excavatum |
1 |
|
|
chest deformity |
1 |
|
|
none |
0 |
|
foot deformity |
hindfoot |
2 |
|
|
pes planus |
1 |
|
|
neither |
0 |
|
pneumothorax |
absent |
0 |
|
|
present |
2 |
|
dural ectasia |
absent |
0 |
|
|
present |
2 |
|
protrusio acetabuli |
absent |
0 |
|
|
present |
2 |
|
body span ratios |
normal |
0 |
|
|
abnormal |
1 |
|
scoliosis or kyphosis |
absent |
0 |
|
|
present |
1 |
|
elbow extension |
normal |
0 |
|
|
abnormal |
1 |
|
facial features |
0 to 2 |
0 |
|
|
3 to 5 |
1 |
|
abnormal skin striae |
absent |
0 |
|
|
present |
1 |
|
myopia |
absent |
0 |
|
|
present |
1 |
|
mitral valve prolapse |
absent |
0 |
|
|
present |
1 |
where:
• Abnormal body span ratios: reduced upper to lower body segments and increased arm span to height ratio without severe scoliosis.
total score =
= SUM(points of the parameters)
Interpretation:
• minimum score: 0
• maximum score: 20
• A score >= 7 is associated with Marfan syndrome.
Specialty: Genetics
