Paediatric Genetics

Question 1

What is Down’s syndrome caused by?

Answer 1

Trisomy 21

Question 2

What are the features of Down’s syndrome?

Answer 2

Learning disability
Congenital heart disease
Hypothyroidism
Immune problems
Early onset Alzheimers

Question 3

Define congenital

Answer 3

Present at birth whether genetic or environmental or both

Question 4

Define syndrome

Answer 4

Pattern of clinical features occurring together

Question 5

How can you diagnose a rare intellectual disability/malformation syndrome?

Answer 5

Hx
Description
Recognition of patterns
Testing (biochem, chromosomal structure, targeted testing)

Question 6

How do you describe dysmorphic features of the head?

Answer 6

Describe:

• Shape
• Size: macrocephaly, microcephaly
• Ear position

Question 7

What ear position indicates lack of maturity?

Answer 7

Low set, posteriorly rotated

Question 8

What is hypertelorism of the eyes?

Answer 8

Inner canthal distance and interpupillary distance increased

Question 9

What is telecanthus?

Answer 9

Milder increase in inner canthal and interpupillary distance

Question 10

What hand measurements and observations do you want to make in child presenting with dysmorphic features?

Answer 10

Finger length
Digital abnormalities
Palmar creases

Question 11

What is acrocephalopolysyndactyly?

Answer 11

Combination of tall forehead, polydactyly and syndactyly

Question 12

What are sequences?

Answer 12

Series of specific developmental malformations which can be attributed to a single cause

Question 13

What is Pierre robin sequence?

Answer 13

Small chin and cleft palate

Question 14

What is foetal akinesia sequence?

Answer 14

Reduced foetal movement, reduced breathing, contractures, clefting, lung hypoplasia

Question 15

What is association?

Answer 15

2+ features occur together more often than expected by chance
Mechanism unclear

Question 16

What is VACTERL?

Answer 16

A recognised group of birth defects that tend to co-occur

Vertebral anomalies
Anal abnormalities
Cardiac defects
Tracheo-oesophageal fistula
Renal/kidney defects
Limb defects

Question 17

Define syndrome

Answer 17

A distinct group of symptoms/signs associated together which form a characteristic clinical picture

Question 18

What is the chromosomal defect in Turner’s syndrome?

Answer 18

45 X

Question 19

What are the clinical features of Turner’s?

Answer 19

Lymphoedema (puffy feet, nuchal translucency, cystic hygroma)
Increased carrying angle, low hair line, wide sp. nipples, sandal gap
Short stature
Mild learning difficulty
Co-arctation of the aorta, hypothyroidism, UTI, osteoporosis, HTN
Primary amenorrhoea, infertility