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MARFAN'S SYNDROME AND OTHER COLLAGEN DISORDERS (dilatation of aortic…
MARFAN'S SYNDROME
AND OTHER COLLAGEN DISORDERS
AD
defect in FBN1 gene on chromosome 15
this encodes for fibrillin-1
dilatation of aortic sinuses
aneurysms
aortic dissection
AR
mitral valve prolapse
repeated pneumothorax
blue sclera and myopia
dural ectasia
MANAGEMENT
monitoring
B-blocker/CCB
EHLER-DANLOS SYNDROME
AD
collagen type 3 affected
AR
mitral valve prolapse
aortic dissection
SAH
OSTEOGENESIS IMPERFECTA
AD
abnormal collagen type 1
blue sclera
deafness 2dry to otosclerosis
dental problems
Mcardle disease
AR type 5 gylcogen storage disease
low lactate during exercise
OTEOPETROSIS
harder bones
autosomal recessive
radiology: loss of differentiation between cortex and medulla
"marble bone"
