Connective Tissue Flashcards
[Gen/CT/Marfan]
Most causes of death for Marfan?
Aortic root dilatation and rupture
[Gen/CT/Marfan]
Major criteria of Ghent criteria? (5)
- Ectopic lentis
- Aortic dilatation or dissection
- FBN1 mutation
- Systemic features > 7 scores
- Family history
2 of major is diagnostic
[Gen/CT/Marfan]
Orthopedic signs of revised Ghent criteria for Marfan syndrome? (6)
- Wrist and thumb signs
- Pectus carinatum
- Hindfoot deformity
- Scoliosis or thracolumbar kyphosis
- Reduced elbow extension
- All 3 of the following: when no scoliosis, reduced upper to lower segment ratio and increased arm span to height ratio (>1.05)
[Gen/CT/Marfan]
Cardiopulmonary signs of revised Ghent criteria for Marfan syndrome? (2)
- Spontaneous pneumothorax
- Mitral valve prolapse
[Gen/CT/Marfan]
Radiographic signs of revised Ghent criteria for Marfan syndrome? (2)
- Dural ectasia
- Protrusio acetabuli
[Gen/CT/Marfan]
Facial features of revised Ghent criteria for Marfan syndrome? (5)
- Dolichocephaly
- Enophthalmos
- Down-slanting palpebral fissures
- Malar hypoplasia
- Retrognathia
[Gen/CT/Marfan]
Skin/eye signs of revised Ghent criteria for Marfan syndrome? (2)
- Skin striae
- Myopia
[Gen/CT/Marfan]
Features for homocystinuria, compared to Marfan (3)
- Downwardly dislocated lens
- Intellectual disability
- Stroke/embolic events
[Gen/CT/EDS]
Characteristics of Ehlers-Danlos syndrome? (4)
- Hyperextensible skin
- Hypermobile joints
- Easy bruising
- Dystrophic scarring
[Gen/CT/EDS]
Abnormal coagulation test for Ehlers-Danlos syndrome
Capillary fragility test
(Hess test, torniquet test)
[Gen/CT]
Name of anomaly?
Name of syndrome?
Hyperflexibility, MVP, Increased arm to height
Dural ectasia
Marfan syndrome
[Gen/CT]
Name of anomaly?
Name of syndrome?
Hyperflexibility, MVP, Increased arm to height
Protrusio actabuli
Marfan syndrome
[Gen/CT]
Name of syndrome?
Begin before 6 months, resolve by 24 months
Leukocytosis, elevated ESR, and ALP
Infantile Cortical Hyperostosis
(Caffey disease)
