multisystem genetics Flashcards
1
Q
what are diagnostic criteria for NF type 1 ?
A
2+ of;
cafe au lait spots 6+ neurofibromas axillary freckling Lisch nodules - iris spots optic glioma thinning of long bone cortex family history
2
Q
what are further features of NF 1 ?
A
macrocephaly short noonan look learning difficulty epilepsy scoliosis pseudoarthritis raised BP neoplasia
3
Q
what gene causes NF1 ?
A
autosomal dominant
gene 17q tumour suppressor
4
Q
what are features of NF2 ?
A
acoustic neuromas
CNS and spinal tumours
few CAL spots
gene on chromosome 22
5
Q
what is the triad of tuberous sclerosis ?
A
epilepsy
learning difficulty
skin lesions
6
Q
what are the genetics of tuberous sclerosis ?
A
autosomal dominant
TSC1,2 genes
7
Q
what are other features of tuberous sclerosis ?
A
skin lesions - various
kidney cysts
phakomas in eyes
rhabdomyomas in heart
8
Q
what are clinical features of myotonic dystrophy ?
A
bilateral late-onset cataract muscle weakness, stiffness, myotonia low motivation bowel problems DM
