Growth And Development Genetics

Question 1

Russell Silver syndrome

Answer 1

Maternal UPD 7 (uniparental disomy of chromosome 7)

• Short stature
• Birthweight 2kg; below 0.4th centile

Treatment options:

• GH as per NICE guidelines for SGA without catch up growth

Question 2

Hypochondroplasia

Question 3

Turners syndrome

Question 5

Trisomy 21

Answer 5

Down syndrome
Most common trisomy in live births
Can effect almost every system:

• Distinctive facial features including large tongue
• Intellectual disability common
  50% have congenital cardiac problems, including AVSD
• Low tone and develop and a different pace
• Feeding issues e.g. sensory issues like texture
• Behavioural issues e.g. stubborness
• Tend to have narrower upper airway passages - more likely to get bronchitis and sleep apnoea
• Hypothyroidism
• Hirschsprungs disease, duodenal atresia
• Diabetes, coeliac, cataracts, predisposition to leaukemia, atlanto-axial instability

MDT approach