Dysmorphology Flashcards
1
Q
What is dysmorphology?
A
The study of abnormal features
2
Q
what does the 22q11.2 deletion give rise to?
A
- congenital heart defect
- learning difficulties
- cleft palate
3
Q
What is achondroplasia?
A
- limb shortening
- hydrocephalus
4
Q
What features do you see with beckwith wiedemann syndrome?
A
- large tongue
- ear pits / creases
- exomphalos
- hemihypertrophy
5
Q
What is seen in Kabuki Syndrome?
A
- learning difficulties
- congenital heart disease
- poor growth
6
Q
What is seen in peutz jeghers syndrome?
A
GI polyps and malignancies
7
Q
What is seen in treacher-collins syndrome?
A
Hearing impairment
cleft palate
8
Q
What is seen in waardenburg syndrome?
A
- Sensorineural hearing impairment
- iris heterochromia (discoloration of Iris)
- premature greying
- areas of skin hypopigmentation
9
Q
7q11 deletion is associated with ….
A
William’s syndrome
10
Q
What is seen in william’s syndrome?
A
- learning difficulties
- congenital heart diseases
- hypercalcaemia
