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.
A 28-year-old in her first pregnancy has a spontaneous vaginal delivery at term, followed by post-partum haemorrhage, just after the placenta is delivered. The doctor managing the emergency asks the midwife to check for placental integrity.
Regarding placental anatomy, which one of the following statements is true?
Question 1 Answer
a.
It originates from the inner cell mass of the blastocyst
b.
Its thickness at the centre is ~ 4 cm
c.
A spiral artery usually supplies 3-4 cotyledons
d.
It contains 15-20 cotyledons
It contains 15-20 cotyledons
A patient is diagnosed with an inherited muscular condition.
They initially presented with frequent ankle sprains.
What is the most likely cause?
Charcot-Marie Tooth Disease
Which is the antipsychotic lisenced in dementia?
Risperidone
Quetiapine
Haloperidol
Aripriprazole
Which is the antipsychotic lisenced in dementia?
Risperidone
Quetiapine
Haloperidol
Aripriprazole
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?
You see this patient in the GP.
You think they have William’s syndrome
Which cardiac condition are they likely to present with?
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
Which is the most common complement deficiency?
C1
C2
C3
C4
C5
Which is the most common complement deficiency?
C1
C2
C3
C4
C5
A key test for hereditary angioedema (C1 esterase inhibitor deficiency) is to check the levels of []
C1
C2
C3
C4
C5
C4 - will be low
A baby is LGA during SFH scans.
At birth it is noticed to have macroglossia, exomphalos, organomegaly.
What condition does it have? [1]
Beckwith Wiedemann
Comes up multiple times in lecture
What type of vasa praevia is depicted? [1]
What type of vasa praevia is depicted? [1]
A mother is detected as being < 10th centile at serial growth scan at 24 weeks.
Which type of doppler would be used to monitor them?
Bilateral cataracts in a newborn would most likely indicate congenital infection of
CMV
VZV
Rubella
TG
HIV
Bilateral cataracts in a newborn would most likely indicate congenital infection of
CMV
VZV
Rubella
TG
HIV
A baby is born and has this scan.
Which is the most likely cause?
CMV
VZV
Rubella
TG
HIV
TG
- Intrancranial calcification
A child has congenital rubella syndrome
Which cardiac complication are they most likely going to have
CoA
ToF
ASD
VSD
PDA
PDA
A baby is born with microcephaly and
fetal growth restriction.
Upon further investigations, ventriculomegaly and cerebellar atrophy are found.
What infection is most likely caused this? [1]
Zika
Which of the following best describes CMV in pregnancy
Infection is most likely in first trimester; biggest risk to baby in first trimester
Infection is most likely in first trimester; biggest risk to baby in third trimester
Infection is most likely in third trimester; biggest risk to baby in third trimester
Infection is most likely in third trimester; biggest risk to baby in first trimester
Infection is most likely in third trimester; biggest risk to baby in first trimester