Congenital abnormalities

Question 1

Features of foetal alcohol syndrome

Answer 1

1. microcephaly (small head)
2. short palpebral fissures (small eye opening)
3. hypoplastic upper lip (thin)
4. absent philtrum
5. reduced IQ
6. variable cardiac abnormalities

Question 2

Risks of cigarette smoking in pregnancy

Answer 2

• increased risk of miscarriage
• stillbirth
• pre-term labour and intrauterine growth retardation

Question 3

Effects on the foetus of Rubella infection during pregnancy

Answer 3

Most at risk at week 16 of pregnancy
1. Cataracts
2. Deafness
3. Cardiac abnormalities
4. Jaundice, hepatosplenomegaly and reduced IQ

Question 4

Foetal Varicella syndrome - what time period does it affect the foetus if mum gets primary infection?

Answer 4

weeks 3-28

Question 5

Features of Foetal Varicella syndrome

Answer 5

1. skin scarring
2. eye defects e.g. small size, cataracts
3. reduced IQ
4. microcephaly
5. abnormal sphincter function

Question 6

Key features of Patau syndrome

Answer 6

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

Question 7

Features of Edward’s syndrome

Answer 7

Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers

Question 8

Features of Fragile X syndrome

Answer 8

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism

Question 9

Features of Noonan syndrome

Answer 9

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

Question 10

Features of Pierre-Robin syndrome

Answer 10

Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate

Question 11

Prader-Willi syndrome
features

Answer 11

Hypotonia
Hypogonadism
Obesity

Question 12

William’s syndrome features

Answer 12

Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis