Term
|
Definition
|
|
Term
|
Definition
café au lait spots
lisch nodules (pigm iris hamartomas)
scoliosis
pheo
up tumors |
|
|
Term
|
Definition
bil acoustic neuroma
optic pathway gliosis
juvenule cataracts |
|
|
Term
|
Definition
adenoma sebaceum on face
dn pigm ash leaf spots on skin
renal benign angiomyolipomas
cardiac rhabdomyomas
cort & retinal hamartomasincompl pen
variable pres |
|
|
Term
|
Definition
hemangioblastomas of retina/CB/medulla
renCA
del VHL on chr 3 |
|
|
Term
|
Definition
depression
progr dementia
chorea
caudate atrophy
dn GABA/Gly
ages 20-50
chr4 CAG repeats |
|
|
Term
|
Definition
post pub
->colonCA unless resected
del on chr5 |
|
|
Term
|
Definition
hemanem
up MCHC
cure: splenectomy |
|
|
Term
|
Definition
|
|
Term
|
Definition
chr 7 CFTR del
def cl- channel -> secrete thick mucus ->
plug lungs, pancr, liver -> recur pulm infns (pseudo & staph a)
chr bronchitis, bronchiectasis, pancr insuff, meconium ileus
cl- in sweat = dx
infert men
adek
tx: NAC |
|
|
Term
|
Definition
XR
frameshift -> del dystrophin -> accel mm breakdown
onset before 5 y/o
pelvic wkness -> progr up
pseudo hypertrophy calves (fatty)
cardiac myopathy
gower's manvr: use upper extrems to stand
upCPK |
|
|
Term
|
Definition
mutated dystrophin
less sever DMD |
|
|
Term
|
Definition
XR
FMR1 methylation problem
2nd most common MR
macro-orchidism
long face, lg jaw, lg everted ears, autism
CGG repeat |
|
|
Term
|
Definition
| triplet repeat in adults, AD |
|
|
Term
|
Definition
MR, flat profile, epicanthal folds, simian crease, duo atresia,
congen heart dz esp primum ASD
yg alz, up risk ALL
dn AFP, up BhCG, up nuchal translucency |
|
|
Term
| dn AFP, up BhCG, up nuchal translucency |
|
Definition
|
|
Term
|
Definition
tri 18
severe MR
rocker bottom feet
lowset ears, micrognathia
congen heart sz, clenched hands, prom occiput
death w.in 1 yr |
|
|
Term
|
Definition
tri 13
severe MR
micropthalmia, microcephaly, cleft lip/palate, abnl forebrain strctrs, polydactyly, congen heart dz
death w.in 1 yr |
|
|
Term
|
Definition
del 5p (the whole arm)
microcephaly, severe MR, mewing, epicanthal folds, cardiac abnls |
|
|
Term
|
Definition
|
|
Term
café au lait spots
lisch nodules (pigm iris hamartomas)
scoliosis
pheo
up tumors |
|
Definition
|
|
Term
bil acoustic neuroma
optic pathway gliosis
juvenule cataracts |
|
Definition
|
|
Term
adenoma sebaceum on face
dn pigm ash leaf spots on skin
renal benign angiomyolipomas
cardiac rhabdomyomas
cort & retinal hamartomasincompl pen
variable pres |
|
Definition
|
|
Term
hemangioblastomas of retina/CB/medulla
renCA
del VHL on chr 3 |
|
Definition
|
|
Term
depression
progr dementia
chorea
caudate atrophy
dn GABA/Gly
ages 20-50
chr4 CAG repeats |
|
Definition
|
|
Term
post pub
->colonCA unless resected
del on chr5 |
|
Definition
|
|
Term
hemanem
up MCHC
cure: splenectomy |
|
Definition
|
|
Term
|
Definition
|
|
Term
chr 7 CFTR del
def cl- channel -> secrete thick mucus ->
plug lungs, pancr, liver -> recur pulm infns (pseudo & staph a)
chr bronchitis, bronchiectasis, pancr insuff, meconium ileus
cl- in sweat = dx
infert men
adek
tx: NAC |
|
Definition
|
|
Term
XR
frameshift -> del dystrophin -> accel mm breakdown
onset before 5 y/o
pelvic wkness -> progr up
pseudo hypertrophy calves (fatty)
cardiac myopathy
gower's manvr: use upper extrems to stand
upCPK |
|
Definition
|
|
Term
mutated dystrophin
less sever DMD |
|
Definition
|
|
Term
XR
FMR1 methylation problem
2nd most common MR
macro-orchidism
long face, lg jaw, lg everted ears, autism
CGG repeat |
|
Definition
|
|
Term
| triplet repeat in adults, AD |
|
Definition
|
|
Term
MR, flat profile, epicanthal folds, simian crease, duo atresia,
congen heart dz esp primum ASD
yg alz, up risk ALL
dn AFP, up BhCG, up nuchal translucency |
|
Definition
|
|
Term
|
Definition
| dn AFP, up BhCG, up nuchal translucency |
|
|
Term
tri 18
severe MR
rocker bottom feet
lowset ears, micrognathia
congen heart sz, clenched hands, prom occiput
death w.in 1 yr |
|
Definition
|
|
Term
tri 13
severe MR
micropthalmia, microcephaly, cleft lip/palate, abnl forebrain strctrs, polydactyly, congen heart dz
death w.in 1 yr |
|
Definition
|
|
Term
del 5p (the whole arm)
microcephaly, severe MR, mewing, epicanthal folds, cardiac abnls |
|
Definition
|
|
Term
|
Definition
cleft palat, abnl facies, thymic aplasia -> t cell def, cardiac defs, PTH hypoplasia
digeorge (thymic, pth or cardiac defs) or velocardaiofacial (velo = palate) |
|
|
Term
cleft palat, abnl facies, thymic aplasia -> t cell def, cardiac defs, PTH hypoplasia
digeorge (thymic, pth or cardiac defs) or velocardaiofacial (velo = palate) |
|
Definition
|
|
Term
|
Definition
highest risk at 3-8 wks
development retardation, microcephaly, facial abnls, limb dislocn, heart/lung fistulae
inh cell migrn?
#1 cause of congen malfs in USA |
|
|
Term
highest risk at 3-8 wks
development retardation, microcephaly, facial abnls, limb dislocn, heart/lung fistulae
inh cell migrn?
#1 cause of congen malfs in USA |
|
Definition
|
|
