Connective Tissue

Question 1

[Gen/CT/Marfan]

Most causes of death for Marfan?

Answer 1

Aortic root dilatation and rupture

Question 2

[Gen/CT/Marfan]

Major criteria of Ghent criteria? (5)

Answer 2

1. Ectopic lentis
2. Aortic dilatation or dissection
3. FBN1 mutation
4. Systemic features > 7 scores
5. Family history

2 of major is diagnostic

Question 3

[Gen/CT/Marfan]

Orthopedic signs of revised Ghent criteria for Marfan syndrome? (6)

Answer 3

1. Wrist and thumb signs
2. Pectus carinatum
3. Hindfoot deformity
4. Scoliosis or thracolumbar kyphosis
5. Reduced elbow extension
6. All 3 of the following: when no scoliosis, reduced upper to lower segment ratio and increased arm span to height ratio (>1.05)

Question 4

[Gen/CT/Marfan]

Cardiopulmonary signs of revised Ghent criteria for Marfan syndrome? (2)

Answer 4

1. Spontaneous pneumothorax
2. Mitral valve prolapse

Question 5

[Gen/CT/Marfan]

Radiographic signs of revised Ghent criteria for Marfan syndrome? (2)

Answer 5

1. Dural ectasia
2. Protrusio acetabuli

Question 6

[Gen/CT/Marfan]

Facial features of revised Ghent criteria for Marfan syndrome? (5)

Answer 6

1. Dolichocephaly
2. Enophthalmos
3. Down-slanting palpebral fissures
4. Malar hypoplasia
5. Retrognathia

Question 7

[Gen/CT/Marfan]

Skin/eye signs of revised Ghent criteria for Marfan syndrome? (2)

Answer 7

1. Skin striae
2. Myopia

Question 8

[Gen/CT/Marfan]

Features for homocystinuria, compared to Marfan (3)

Answer 8

1. Downwardly dislocated lens
2. Intellectual disability
3. Stroke/embolic events

Question 9

[Gen/CT/EDS]

Characteristics of Ehlers-Danlos syndrome? (4)

Answer 9

1. Hyperextensible skin
2. Hypermobile joints
3. Easy bruising
4. Dystrophic scarring

Question 10

[Gen/CT/EDS]

Abnormal coagulation test for Ehlers-Danlos syndrome

Answer 10

Capillary fragility test
(Hess test, torniquet test)

Question 11

[Gen/CT]

Name of anomaly?
Name of syndrome?

Hyperflexibility, MVP, Increased arm to height

Answer 11

Dural ectasia
Marfan syndrome

Question 12

[Gen/CT]

Name of anomaly?
Name of syndrome?

Hyperflexibility, MVP, Increased arm to height

Answer 12

Protrusio actabuli
Marfan syndrome