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39
Give examples of Childhood progeroid syndromes:
What are the clinical features?
What are the defective genes?
prognosis?
What are the clinical features?
What are the defective genes?
prognosis?
Hutchinson- Gilford syndrome -
LMNA defect ( a a member of the intermediate filament super gene family and forms part of the nuclear lamina/nucleoskeleton. The lamia protects the nucleus fromphysical damage, acts as a sensor foroxidative stress and controls the differentiation of adult stem cells)
clincial features for HGPS are: short stature, atrophy of sub cutaneous fat, alopecia, musculoskeletal abnormalities, osteolysis, premature atherosclerosis,
Widermann- Rautenstrauch syndrome - genes unkown
mutations of genes lead to replicative senescence and genome instability including telomere shortening and aneuploidy
clincal features general:
failure to thrive-
short stature
alopecia,
manibular dysplasia
hyperlipidemia,
type 2 diabets,
atherosclerosis
osteolysis
death before second decade from coronary artery disease or stroke
LMNA defect ( a a member of the intermediate filament super gene family and forms part of the nuclear lamina/nucleoskeleton. The lamia protects the nucleus fromphysical damage, acts as a sensor foroxidative stress and controls the differentiation of adult stem cells)
clincial features for HGPS are: short stature, atrophy of sub cutaneous fat, alopecia, musculoskeletal abnormalities, osteolysis, premature atherosclerosis,
Widermann- Rautenstrauch syndrome - genes unkown
mutations of genes lead to replicative senescence and genome instability including telomere shortening and aneuploidy
clincal features general:
failure to thrive-
short stature
alopecia,
manibular dysplasia
hyperlipidemia,
type 2 diabets,
atherosclerosis
osteolysis
death before second decade from coronary artery disease or stroke
