Genetic Disorders

Question 1

Hypertelorism/telecanthus.

Answer 1

increased inner canthal distance (between the inner corners of eyes) and increased inter-pupillary distance

Question 2

What is Pierre Robin Sequence?

Answer 2

main feature is a small lower jaw (‘mandibular hypoplasia’ or ‘micrognathia’), which leads to the tongue being more likely to fall backwards and obstruct the airways, which can then stop the palate from closing properly (causing a cleft palate).

Question 3

What is foetal akinesia sequence?

Answer 3

• reduced foetal movement
• reduced breathing
• contractures of joints
• clefting
• lung hypoplasia

Question 4

How can foetal akinesia be detected?

Answer 4

at 20 week scan by observing abnormal limb position and reduced movements

Question 5

What is VATER association?

Answer 5

a condition in which the patient may have more than one of the following:

• Vertebral defect
• Anorectal atresia
• Tracheo-
• Esophageal fistula
• Radial anomalies

Question 6

What are features someone with Turner syndrome (45,X) might present with?

Answer 6

• lymphoedema (puffy feet)
• increased carrying angle, low hairline, wide spaced nipples, sandal gap
• short stature
• coarctation of aorta, hypothyroidism, UTI, osteoporosis and hypertension
• primary amenorrhoea and infertility

Question 7

Polydactyly.

Answer 7

too many digits

Question 8

Syndactyly.

Answer 8

fused digits