Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
5 Cards in this Set
- Front
- Back
What is Turner's Syndrome? How does Turner's Syndrome present? What treatment would you give? |
XO genotype They also have heart defects, skeletal abnormalities and webbed necks, low hairline and down-sloping eyes. Treatment:
Note HRT should be continued throughout life to prevent osteoporosis.
|
|
What is Klinefelter's Syndrome? How does it present? How is it managed? |
XXY genotype leading to hypogonadism, gynaecomastia and sterility, due to reduced testosterone production. 10% are diagnosed prenatally, but other present during puberty. Psychological support and hormone treatment.
|
|
What is Noonan's Syndrome? How does it present? How is it managed? |
Common autosomal dominant disorder causing short stature, facial dysmorphism, chest heart and development issues. Infants present with feeding issues, hypotonia and failure to thrive. Coordination issues. Diagnosis is clinical:
Treatment is: Specialist referral, orchidopexy for cryptorchidism, CVS assessment, GH for growth.
|
|
What is Patau Syndrome? |
Trisomy 13 causing:
Treatment is symptomatic with aCVS assessment |
|
What is Edwards Syndrome? How does it present? What is management? |
Trisomy 18 normally female, but the majority die before birth.
Lifespan is 5 to 15 days. |