Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

LF boards study > conditions > Flashcards

conditions Flashcards

1
Q

bardet- biedl

A

obesity, vision loss, polydactyly, inferitlity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Incontinentia pigmenti

A 
irregular brown skin whorls
wart like growths
alopecia
vision loss
lined/pitted fingernails
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

22q11 del

A 
conotrucal defects, TOF, trucus
schizophrenia
abnormal crying facies
hypocalcimia
cleft palate
thymic abnormality
hypoparathyroidism
long face, small teeth, broad nose
high pitched/ nasal voice
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

homocystinuria

A

AR
marfanoid habius
ID
aminoacidopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

smith lemli opitz

A 
abnormal genitals
microcephaly
ID, behavior
AV canal, VSD, ASD
renal hypoplasia
2-3 syndactyly
polydactyly
lung abnormal
hypigmentation
photosensistive
cystic hygroma
HET advantage
NORTHERN EUROPEANs
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

rubenstein taybi

A 
AD
deletion
large nose
chronic knee dislocations
aortic stenosis
malformed ribs
increased risk for cancer
short stature
ID
high palate
grimacing smile
cocktail personality
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

X linked ichtyosis

A

steroid sulfatase deficiency
stratum corneum defect
scaly skin
STS gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Pallister Hall

A 
polydactyly
syndactyly
bifid epiglottis
imperforate anus
hypothalmic hamartoma
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

miller dieker

A

de novo deletion
lisencephaly
seizures
omphalocele

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

pallister killian

A 
mosaic 12p isochromosome
diaphragmatic hernia
hypotonia
sparse hair
abnormal pigmentation
hearing/vision loss
GU abnormalities
polydactyly
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

stickler syndrome

A 
high myopia
cleft palate
hearing loss
hypermobile
MVP
many genes in COL pathway
AD and AR
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

meckel gruber

A

cystic kidneys
occipital encephalocele
ciliopathy
lethal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

antley bixler

A

FGFR2 AR
radial-uhlner fusion
craniosynostosis
co anal atresia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

tetracycline

A

after four months, brown teeth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

limb girdle muscular dystrophy

A

mostly AR
muscle wasting
cardiomyopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

russel silver syndrome

A 
short stature
dev delay
clinodactyly
loss of methylation of 12
maternal UPD of 7
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

pendred syndrome

A

goiter
hearing loss
ENLARGED vestibular aquaduct

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

BOR

A

branchio pits/ cysts
hearing loss
renal abornmalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Connexin 26

A

GJB2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

canavan disease

A 
leukodystrophy
regression at 3-5 mo
do not develop motor skills
hypotonia
macrocephaly
seizures sleep disturbances
childhood death
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

familial dysautonomia

A 
autonomic neuropathy
hypotonia
lack of tears
lung infections
maintaining body temp
cyanosis
vomiting
bed wetting
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

huntington

A 
gain of function
chorea
behavior
movement
cognitive
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

sickle cell

A 
glu 6 val
1/3-1/12 african american
pain crises
heart failure
kidney failure
weakness
pneumonia
"towering" skull
organ/joint damage
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

alpha thal

A 
low MCV<80
normal 4
silent carrier 3
trait 2---- cis in SEA, trans in African America
hbh 1
hb barts 0

anemia, splenomegaly, jaundice,
need transfusion and chelation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

beta thal

A

high A2
low MCV<80

hets- mild anemia
Bnot- null no function
B+- missense reduced
thal major two null mutations
thal intermedia two beta plus

beta thal major- symptoms at 6-8 mo, severe anemia hepatosplenomegaly, jaundice, heart failure, thal facies

transfusions, chelation, stem cell transplant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

hemophilia A

A 
x linked
factor 8 deficiency
easy bruising
joint bleeds
replace factor 8
inversions first then sequencing
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

hemophilia B

A

x linked
factor 9 deficiency
sequencing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

XIST

A

x inactivation transcript

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

anhidrotic ectodermal dysplasia

A 
x linked
hypotrichosis
hypodontia
nail hypoplasia
alopecia
abnormal sweating
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

spino bulbar muscular atrophy

A 
X-linked
proximal weakness
gynecomastia
testicular atrophy
trinucleotide repeat
gain of funtion
31
Q

fetal valproate syndrome

A 
NTD
myelomeningiocele
heart defect
raschisis
epicanthal folds
thin upper lip
3 bone thumb
bifrontal narrowing
32
Q

kearn sayres syndrome

A 
sporadic mt gene deletion
progressive opthalmia
heart block
pigmentary retinopathy
cerebellar syndrome
short stature
hearing loss
high CSF
die by 30s or 40s
33
Q

NARP

A

neuropathy
ataxia
retinitis pigmentosa

34
Q

leigh syndrome

A

infantile lethal
encephalopathy
regression
severe form of NARP

35
Q

LHON

A

lebers hereditary optic neuropathy
unilateral central vision loss, two weeks later lose the other eye
cardiac arrhythmias
18-30 onset

36
Q

neimann pick C

A

palsy of upwards gaze
death in childhood/teen
ataxia
cholesterol trafficking defect

37
Q

neimann pick a

A 
ashkenazi jews
death by three yo
sphingomyelinase deficiency 
heptosplenomegaly
poor growth
neurological degneration
hypotonia
38
Q

neimann pick b

A 
allelic with type A
later onset
fewer neurological symptoms
sphingomyelinase deficiency 
heptosplenomegaly
poor growth
neurological degneration
hypotonia
39
Q

gaucher

A 
slenomegaly
thrombocyopenia
bruising
clotting
breating problems
bony involvement
erlenmyer flask deformity

type 1 adult, ERT, AJ, most common, osteopenia, pulmonary disease

type 2 neurolic involvment, no ERT

type 3 neuronopathic
slowly progressive
disturbances in upwards gaze
swedish mutation L444P

40
Q

GSD 1

A 
von gierkes disease
3-4 mo onset
MASSIVE hepatomegaly
feed every three hours- cornstarch
seizures
hyperlipidemia
xanthomas
lactic acidosis
hyperuricemia
short stature
delayed puberty
41
Q

GSD 2

A 
pompe disease
3-4 mo onset
hepatomegaly
myopathy
hypotonia/floppy
heart defect
cardiomegaly
elevated creatine kinase
death by 1 year if no treatment
ERT
42
Q

Tay sach

A 
hex a enzyme test
NO organomegaly
cherry red spot
seizures
loss of skills
43
Q

krabbe

A 
VERY stiff
startle to noise
NO organomegaly
death by 1 year
stem cell transplant
44
Q

GSD 5

A

mcardle disease
exercise intolerance
high carb diet

45
Q

FAOD

A 
SIDS
hypoglycemia
hypoketotic
lethargy
NO FASTING
Maternal HELLP syndrome
46
Q

MELAS

A

mitochondrial encephalopathy lactic acidois stroke like episodes

47
Q

5 elements of informed consent

A 
competence
amount and accuracy of information
patient understanding
voluntariness
authorization
48
Q

no call NIPS

A

more likely to be anueploidy

more likely to have another no call after

49
Q

warfarin

A

nasal hypoplasia
stippled epiphyses
limp hypoplasia

50
Q

ace inhibitor

A

2-3 trimester
potters sequence
IUGR
large anterior fontonelle

51
Q

SSRIs

A 
2 fold CHD
behavior
anencephaly
craniosynostosis
mild withdrawl
52
Q

mercury

A

CNS abnormalities

53
Q

Radiation

A 
>5rads to have effects
microcephaly
ID
seizures
IUGR
eye abnormalities
carcinogenesis
54
Q

fluconazole

A

look like antely bixler

55
Q

anticonvulsants

A 
cleft
hypertelorism
fingernail hypoplasia
cognitive impairment
meningiomyelocele
dev delay
CHD
limb defects
56
Q

Isotrentinoin acutane

A 
CNS 
ear
thymus
ID
cardio
57
Q

cigarettes

A 
clefts
infertility
ectopic pregnancy
miscarriage
IUGR
placental abruption
sids
58
Q

CMV

A 
IUGR
cerebral calcification
hearing loss
occular abnormalities
hepatosplenomegaly
"BLUEBERRY MUFFIN BABY"
59
Q

alcohol

A

IUGR
CNS
behavior
facial feature

60
Q

benzodiazapines

A

neonatal adaptation syndrome

61
Q

x linked leukodystorphy

A

ABCD1 gene
3-10 yo onset
progressive spasticity, cognitive decline, vision loss, to vegetative state

62
Q

cleft palate alone

A

more often syndromic

63
Q

cleft lip/palate sex difference

A

2x more likely in boys

cleft palate more often in girls

64
Q

Simpson-Golabi-Behmel Syndrome

A

XLR
Overgrowth
Abdomen/Chest: supernumerary nipples, diastasis recti, umbilical hernia, diaphragmatic hernia
Also: CHD, malformed kidneys, HSM, and skeletal anomalies
Increased risk for Wilm’s Tumor and neuroblastoma
Distinct face: Coarse: hypertelorism, macrostomia, macroglossia, broad nose w/ upturned tip

65
Q

SMA mutation

A

typically a deletion

66
Q

tay sachs testing

A

need to do leukocytes for pregnant women

67
Q

Tuberous Sclerosis Complex:

A 
Skin Involvement:
Ash leaf spots (hypopigmented)
Shagreen patches
Facial angiofibromas (disfiguring)
Inguinal/Periungual fibromas 
Kidney Involvement:
Renal cysts
Renal angiomyolipoma
Lung Involvement:
Lymphagioleiomyomatosis (LAM) in 3rd/4th decade→ only women (estrogen)
Heart Involvement:
Cardiac rhabdomyoma (usually regresses by 1 yo) 
Brain Involvement:
Cortical tubers (higher number= higher cognitive impairment) 
Subependymal giant cell astrocytomas
Subependymal nodules  
Eye: optic nerve hamartomas (retinal)
Other Notes:
Variable expressivity; woman tend to be more mild than men
68
Q

WAGR

A

SPORADIC
Wilm’s Tumor: 45-60% chance
Aniridia: reduced visual acuity, photophobia; also cataracts and glaucoma
GU Anomalies: more often in males: cryptorchidism (females may have streak gonad and/or bicornate uterus)
Retardation: ID; may also have psych or behavioral problems
Also: obesity (WAGRO), pancreatitis, kidney failure

69
Q

Wolf Hirschhorn Syndrome

A 
Deletion: 4p16.3 
Who Should they see
Intellectual disability→ ST, OT, PT
Seizures→ neurology
Feeding Problems→ gastroenterology 
CHDs→ cardiology (usually ASD) 
Opthal Abnormalities→ ophthalmologist 
Skeletal problems→ orthopedics
Antibody deficiencies→ immunologist ?
Hearing loss→ audiologist 
Urinary tract malformation→ urologist
70
Q

mitochondrial hearing loss

A

A1555G 12SRNA

71
Q

triploidy mom

A

IUGR, small placenta

72
Q

triploidy dad

A

cystic placenta, partial mole, IUGR, syndactyly

73
Q

APA

A

FGFR-related craniosynostosis, Achondroplasia, Alport Syndrome

LF boards study (1 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions