Down Syndrome Flashcards
1
Q
What is the result of Trisomy 21?
A
Down Syndrome
2
Q
What is the incidence of DS?
A
1: 600 - 800 births
3
Q
What is the most common abnormality of autosomal chromosomes?
A
Trisomy 21
4
Q
How does risk of T21 change with maternal age?
A
1:1500 at age 20 to 1:20 at 45y
5
Q
What are the cranial / brain features of T21?
A
- Mild microcephaly
- Flat occiput
- 3rd fontanelle
- Brachycephaly
6
Q
What are the eye features of T21?
A
- Upslanting palpebral fissures
- Inner epicanthal folds
- Speckled iris (Brushfield spots)
- Refractive errors (myopia)
- Acquired cataracts
- Nystagmus
- Strabismus
7
Q
Ear features of T21?
A
- Low, small set ears with over-folded upper helix
- Frequent AOM
- Hearing loss
8
Q
Facial features of T21?
A
- protruding tongue
- large cheeks
- low flat nasal bridge
- small nose
9
Q
Skeletal / MSK features of T21?
A
- Short stature
- Excess nuchal skin
- Joint hyper flexibility (80%) inc dysplastic hips, vertebral anomalies, atlantoaxial instability
10
Q
Cardiac defects a/w T21?
A
50% esp AVSD
11
Q
GIT defects a/w T21?
A
- Duodenal / oesophageal / anal atresia
- TOF
- Hirschsprung’s disease
- Chronic constipation
12
Q
GUT changes with T21?
A
- Cryptorchidism.
- Rarely fertile
13
Q
CNS features of T21?
A
- Hypotonia at birth
- Low IQ
- Developmental delay
- Hearing problems
- Onset of AD in early 40s
14
Q
Hand features of T21?
A
- Transverse, single palmar crease
- Clinodactyly
- Absent middle phalanx of 5th finger
15
Q
What are common medical conditions concurrent with T21?
A
- Polycythemia
- Hypothyroidism
- 1% lifetime risk of leukemia
