Paediatrics

Question 1

In Edwards’ Syndrome there are three copies of which chromosome?

Answer 1

Chromosome 18 (Known as trisomy 18)

Question 2

What are the clinical features of Edwards’ Syndrome?

Answer 2

Characteristic facial anomalies
- Low-set ears (malformed auricle)
- Micrognathia (congenital mandibular hypoplasia)
- Prominent occiput
- Microcephaly
- Broad nose
- Cleft lip and palate, high palate
Clenched fists with flexion contractures and overlapping fingers
Rocker-bottom feet: convex deformity of the plantar
side of the foot, with a vertical talus, and prominent calcaneus
Congenital heart defects
(particularly VSD, ASD, tetralogy of Fallot)
Malformations of internal organs: diaphragmatic hernia, ureter, and kidneys (horseshoe kidneys)
Myelomeningocele
Omphalocele
Severe intellectual disability

Question 3

Which gender is more commonly effected by Edwards’ syndrome?

Answer 3

Female

Question 4

How many live births are affected by Edwards’ syndrome?

Answer 4

1 in 3,300

Question 5

How common is Edwards’ syndrome compared to other triosmys?

Answer 5

After trisomy 21, trisomy 18 is the most common autosomal tiresome in which foetuses can survive till birth

Question 6

What percentages of babies survive beyond 12 months old?

Answer 6

13%

Question 7

What are the three types of Edwards’ Syndrome?

Answer 7

Full Edwards Syndrome
Mosaic Edwards Syndrome
Parital Edwards Syndrome

Question 8

What is Full Edwards’ Syndrome?

Answer 8

An extra chromosome is present in all cells

Often more severe, most fetuses die before birth

Question 9

What is Mosaic Edwards’ Syndrome?

Answer 9

1 in 20 have an extra chromosome in just some cells

- Milder effects of the condition, depending on the number and type of cells that have the extra chromosome

Question 10

What is Partial Edwards’ Syndrome?

Answer 10

1 in 100 have only a section of the extra chromosome 18 in their cells
- how is affects the baby depends on which part of chromosome 18 is present in their cells

Question 11

What is the pathogenesis of Edwards’ Syndrome?

Answer 11

Meiotic nondisjunction
- The failure of homologous chromosomes to segregate properly to opposite poles doing meiosis resulting in the production of gametes that have an improper chromosome complement

Question 12

In which gamete does meiotic nondisjunction most likely occur?

Answer 12

During maternal meiosis I

Question 13

What does PRINCE Edward turned 18 stand for?

Answer 13

Prominent occiput
Rocker-bottom feet
Intellectual disability 
Nondisjunction (in meiosis)
Clentched fists
low-set Ears

and

Chromosome 18