Advanced
Pathophysiology
Down
Syndrome
-
ANS
•Epicanthal
fold
•Brushfield
spots
(white
spots
on
iris)
•Microcephaly
•Flattened
nose,
protruding
tongue,
&
low
set
ears
(shell-like)
•Short
hands/fingers
with
transverse
palmers
creases,
5thdigit
curves
inward
•Delayed
growth,
development
•Mental
retardation
across
spectrum
of
low
to
high
function
•Hypotonic
muscles
•Delayed
social
skills
Klinefelter's
Syndrome
-
ANS
•At
lease
2
x
and
1Y
•Male
appearance
•Sterile
•Gynecomastia
(50%)
•Small
testes,
sparse
body
hair
•High
pitched
voice
•Moderate
degree
of
MR
•Nondisjunction
of
X
in
mother
•Incidence
increases
with
maternal
age
Turner
Syndrome
Manifestations
-
ANS
Not
considered
retarded,
but
some
impairment
of
spatial
&
mathematical
ability
•Coarctation
of
the
aorta
•Dysfx.
of
liver,
thyroid,
heart,
&
kidneyRISKS
Risks
associated
with
Turner
Syndrome
-
ANS
DM
•OSTEOPOROSIS
•Scoliosis
•Hip
dislocation
•HTN
•Cancer
of
gonadal
tissue
Turner
Syndrome
-
ANS
•45-X(single
X
chrom.)
•Meiotic
error
in
father
•Short
stature
with
skeletal
abnormalities
•Droopy
eyelids
•Hearing
loss
•Webbed
neck
•Low
hairline
•Lack
of
secondary
sex
characteristics
-no
menstruation;
infertile
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller ALICE12. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $10.99. You're not tied to anything after your purchase.