Term
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Definition
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Term
|
Definition
| unusual forces of normal tissue puts pressure on area |
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Term
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Definition
| abnormal break down of tissue |
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Term
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Definition
abnormal organization of cells
tissues come together poorly |
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Term
| general cause of down syndrome |
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Definition
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Term
| 22 abnormalities in down syndrome |
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Definition
hypotonia: open mouth, protruding tongue
mental retardation
brachycephaly: flat occiput, microcephaly, upslanting papbebral fingres, late frontanel closure
loos folds in posterior neck
short neck
small ears
brushfield spots: speckeled iris
fine lens ovacities
adult cataracs
myopia
conductive 66%, sensorineural, or mixed hearing loss
hypoplasia of dentition
short metacarpals
cindodactyly
simean crease
gap beterrn 1st and 2nd toes
lateral ilial wing outflare and hypoplasia
endocardial cushion defect
small penis and testicles
rare fertility in females
no fertility in males
AA dislocation |
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Term
| what is the heart defect in down syndrome |
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Definition
| endocardial cushion defect |
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Term
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Definition
| hypoplasia of midpharynx on 5th finger |
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Term
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Definition
| single palmar creast from radial to ulnar aspect of palm |
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Term
| 10 signs of down syndrome in neonate |
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Definition
hypotonia
poor moro reflex
hyperflexability of joints
excess skin on back of neck
flat facial profile 90%
slanted palpebral fissures
anomalous auricles
dysplasia of pelvis
dysplasia of midphalynx on 5th finger
simian crease 45% |
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Term
| explain the progression of muscle tone with down syndrome |
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Definition
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Term
| explain the progression of mental retardation with down syndrome |
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Definition
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Term
| explain the progressional of sexual and growth development in down syndrome |
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Definition
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Term
| explain the general social appearance, speech, and coordination of someone with down syndrome |
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Definition
happy, commonly mimics, enjoys music, sense of rhythm
voice hars due to larynx hypoplasia (sleep upper airway obstructions)
coordination poor |
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Term
| what is the average IQ of someone with down syndrome |
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Definition
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Term
| what is the most common cause of death in babies with down syndrome |
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Definition
congenital heart defects
without one they usually live to 20-30yo |
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Term
| what is the most common cause of death in an older pt with down syndrome |
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Definition
| respiratory disease (pneumonia) |
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Term
| why is it a concern for people with down syndrome to play sports |
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Definition
asymptomatic AA dislocations can compress spinal cord
seen in 12-20% of pt |
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Term
| what are the three types of down syndrome, explain each, what is the prevelence |
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Definition
fully trisomy 21 (3 chromosomes on 21st pair) 94%
21 trisomy/normal mosaicism (less symptoms, some cells have it, some dont) 2.4%
translocation (D to G or G to G0 3.3% |
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Term
| what is the most common cause of down syndrome when mom is between 15-29 yo |
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Definition
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Term
| what is the most common cause of down syndrome when mom is older than 29 |
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Definition
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Term
| what is the incidence of down syndrome when mom is 45+ |
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Definition
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Term
| what is the incidence of down syndrome when mom is 40-44 |
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Definition
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Term
| what is the incidence of down syndrome when mom is 35-39 |
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Definition
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Term
| what is the incidence of down syndrome when mom is 30-34 |
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Definition
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Term
| what is the incidence of down syndrome when mom is 15-29 |
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Definition
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Term
| in general, what is the cause of edwards syndrome |
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Definition
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Term
| 16 sings of edwards syndrome |
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Definition
feeble activity, weak cry
single umbilical artery
prominent occiput
crossed legs
narrow bifrontal diameter
low set ears
clenched hands and feet with overlap
low arch dermal ridges on fingertips
short hallux usually dorsiflexed
short sternum
small pelvis
inguinal/unbilical hernia
cryptorchidism
VSD
PDA |
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Term
| what is the heart defects in edwards syndrome |
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Definition
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Term
| what is the prognosis of edwards syndrome |
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Definition
50% die in first week
40% die in second week
10% survive first year |
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Term
| when you know a baby is going to have edwards syndrome, what do you need to be ready to do at birth |
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Definition
| recussitation and prepare for apenic episodes through out neonatal period |
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Term
| if a baby with edwards syndrome survivis what will be the extent of their communication |
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Definition
| limited to a few single wirds |
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Term
| how many kids with edwards syndrome have lived past 10 yo |
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Definition
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Term
| what are the the 3 types of edwards syndrome explain each |
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Definition
trisomy 18: most cases
mosacism: partial clinical expression, longer survival
partial trisomy 18: trisomy for distal 1/3 to 1/2 of long arm leads to partial picture of disease with longer survival |
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Term
| how is hypertonicity displayed in edwards syndrome (6) |
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Definition
crossed legs
short sternum
narrow prlvis
prominent occiput
low set slanted auricle
clenched hands with finger outlying third |
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Term
| what are two other names for deletion 5p syndrome |
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Definition
chromosome 5 short arm deletion syndrome
cru dushet |
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Term
| 9 signs of deletion 5p syndrome |
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Definition
ocular hypertelorism
broad or beaked nose
cutaneous pits
microcephaly and or cranial asymetry
low set simple ear with preauricular dimple
cat like cry before larynx development
cleft lip or palate
short stature |
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Term
| define ocular hypertrlorism |
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Definition
| lots of space between inner canthi of eye |
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Term
| what is an exmaple of disrution |
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Definition
| pierre robinsons syndrome |
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Term
| what is an example of dysplasia |
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Definition
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Term
| what is another name for turner syndrome |
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Definition
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Term
| 20 signs of turner syndrome |
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Definition
female
short
narrow maxilla
small mandible
webbed neck
anomalous auricles
low posterior hair line
mean IQ 90
visual spatial organization deficits
ovarian dysgenesis
congenital lymphedema with residual piffiness over dorsum of fingers and toes
broad chest
widely spaced nipples (hypoplastic, inverted, or both)
cubitus valgus elbow
bone dysplasia
dislocation of hip
horseshoe kidney
bicuspid aortic
aortic coarctation
perceptive hearing impairment |
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Term
| what is the heart defect in turner syndrome |
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Definition
bicuspid aortic valve
coractation of aorta |
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Term
| what are two other names for fragile X syndrome |
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Definition
martin bell syndrome
marker X syndrome |
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Term
| signs of fragile X syndrome |
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Definition
males
normal life span
trouble maker
mental deficiency IQ 30-55
macro-orchidism: size increase B4 puberty
microcephaly in early childhood
proganthism
cluttered speech: like autism
hyperkinetic behavior
emotional instability
hand biting |
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Term
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Definition
| protruding jaw and dental crowding |
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Term
| what disease do you alway need to check for with fragile X, why |
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Definition
autism: cluttered speech like autism, hand biting and other autistic characteristics
often associated diseases |
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Term
| 12 signs of barder viedl syndrome |
|
Definition
syndromic obesity
retinal pigmentation
retinal dystophy 100%
myopia
moderate mental deficiency verbal IQ 79 or lower
polydyctyly
abnormal renal calyces
hypogonadism of penis and testes
normal sexual development in women
irregular periods
hypertension |
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Term
| what are the 9 signs of vater association |
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Definition
vertebral anomalies
VSD and other cardiac defects
anal atresia w/ or w/o fistula
TE fistula with esophageal atresia
radial dysplasia: including thumb, radial hypoplasia, preaxial polydactyly and syndactyly
renal anomaly single umbilical artery |
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Term
| 11 signs of charge syndrome - not all needed for diagnosis |
|
Definition
coloma of eye, vision loss
heart defects
atresia of chonae
retardation of growth and development
GU abnormalities
ear abnormalities and deafness
balance and communication problems |
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Term
|
Definition
| mutation on CHD7 on long arm of CH8 |
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