Qs Flashcards
You see this patient in the GP.
Their mum mentions they have a fascination with water
Which genetic condition do you think they have?
William’s syndrome
Noonan’s syndrome
Prader-Willi syndrome
Angelman’s syndrome
Patau’s syndrome
Angelman
- TOM TIP: The novel features to remember and link with Angelman syndrome so you can spot it in your exams is the unusual fascination with water, happy demeanour and widely spaced teeth.
What is the most common cause of neonatal respiratory distress in full-term/postmature infants? [1]
You see this patient in the GP.
Upon eye examination you notice this pattern
Which genetic condition do you think they have?
- William’s syndrome
- Noonan’s syndrome
- Prader-Willi syndrome
- Angelman’s syndrome
- Patau’s syndrome
- William’s syndrome
- starburst eyes in iris
You see this patient in the GP.
You think they have William’s syndrome
Which cardiac condition are they likely to present with?
- Bicuspid aortic valve
- Mitral valve stenosis
- Aortic regurgitation
- Aortic dissection
- Supraclavicular aortic stenosis
Supraclavicular aortic stenosis
TOM TIP:
- The distinctive features to remember with William syndrome are the very sociable personality, the starburst eyes and the wide mouth with a big smile. It is worth remembering the association with supravalvular aortic stenosis and hypercalcaemia, as these are unique features that are easy to test in exams.
ITP is which type of hypersensitivty syndrome?
I
II
III
IV
I
II
III
IV
A patient with anorexia might have which of the following
mitral stenosis
aortic stenosis
tricuspid stenosis
aortic valve prolapse
mitral valve prolapse
mitral valve prolapse
An infant has seizures.
An ECG is performed and shown
Based off this ECG what is the most likely cause of the seizures?
Dravet Syndrome
Juvenile Myoclonic Syndrome
Reflex anoxic seizure
West’s syndrome
Lennox–Gastaut syndrome
West’s syndrome
- hypsarrhythmia being classical of west’s syndrome.
An infant has seizures.
An ECG is performed and shown that suggests West syndrome.
What would the first line treatment be? [1]
Vigabatrin
