• Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off
Reading...
Front

Card Range To Study

through

image

Play button

image

Play button

image

Progress

1/5

Click to flip

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
Present with short stature and poor growth, and absent pubertal development and amenorrhoea.


They also have heart defects, skeletal abnormalities and webbed necks, low hairline and down-sloping eyes.


Treatment:


  • Growth hormone
  • Oestrogen
  • Progesterone
  • Cardio assessment

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:


  • Pulmonary Stenosis
  • Low Height
  • Pectus deformity
  • Family History
  • Cognitive impairment/cryptorchidism

Treatment is:


Specialist referral, orchidopexy for cryptorchidism, CVS assessment, GH for growth.




What is Patau Syndrome?

Trisomy 13 causing:


  • CNS - delay, microcephaly, meningomyocele
  • Musculo - polydactly, low set ears
  • Urogenital - abnormal genitalia
  • VSD PDA

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.


  • Kidneys -
  • Heart - VSD, ASD, PDA
  • GI - outside the body
  • feeding and breathing difficulties.

Lifespan is 5 to 15 days.