Term
Marfan
1. protein mutated? messes with?
2. musculo skeletal abn
3. visual
4. cardio
5. recessive, dominant? |
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Definition
1. fibrillin surrounds elastin get cystic medial necrosis
2. (not necessarily tall) arachnodactyl, upper body smaller than lower (0.85 vs 0.93), arms span exceeding height, pectus excavatum
3. lens disolication
4. proximal aortic dilatation, mitral valve prolapse, aortic valve insufficiency
5. dominant |
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Term
homocystinuria
1. looks like what other CT disorder but with?
2. enzyme deficiency --> ?
3. can you detect this in urine? blood?
4. phenotype |
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Definition
1. marfan's with MR/psych disorders
2. cystathionine synthetase, body cannot metabolize methionine and homocysteine, homocystein builds up
3. both
4. nearsighted other visual stuff, scoliosis, tall thin build, long limbs, pectus exacavatum and protrusion of chest over sternum (pectus carinatum) |
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Term
| 1. most common ct disorder? |
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Definition
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Term
ehler's danlos most commonly AD
1. different mutations, in most cases in what? in classical type specifically-->
2. classical type major features (skin, scars, joints), minor (skin, muscle) (predelications for hernia other problems from tissue extensibility) |
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Definition
1. collagen and elastin, COL5A1 and COL5A2 of type V collagen --> defects in collagen and leastin
2. major skin hyperextensible, widened thin scars, joint hypermoblility; minor smooth velvety skin, muscle hypotonia |
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Term
ehler's danlos - hypermobility type, most common
joint hypermobility, skin hperextensible, smooth velvety skin
1. what is main morbidity?
test via different joint flexibility, need 5 points for diagnosis |
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Definition
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Term
vascular type ehler's danlos
1. basic defect?
2. severity?
die of aortic root dilatation
major features - arterial, intestinal, uterien fragility or rupture, characteristc facial appearance
minor: hypermobile, tendon muscle rupture, positive family history, suddent death of close relative |
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Definition
1. proa I(III) of collagent type 3 COL3A1 gene
2. don't live to adulthood |
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Term
EDS kyphoscoliosis
1. defect
major: general joint laxity, sever hypotonia infants, scoliosis at birth and progressive, fragile sclera |
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Definition
| 1. lysyl hydroxylase a collagen modifying |
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