Childhood Syndromes

Question 1

Patau Syndrome

Chromosome?
Features?

Answer 1

Trisomy 13

Microcephaly, Small eyes, Polydactyly, Scalp Lesions

Question 2

Edward’s Syndrome

Chromosome?
Features?

Answer 2

Trisomy 18

Micrognathia, Low-Set ears, rocker bottom feet, Overlapping of fingers

In utero ultrasound findings: Cardiac malformations, choroid plexus cysts, neural tube defects, abnormal hands and feet, small placenta

Question 3

Fragile X

Answer 3

Usually CCG repeat in FMR1 Gene.

Learning Difficulties, Macrocephaly, Long Face, Large Ears, Macro-orchidism

Question 4

Noonan Syndrome

Answer 4

Webbed neck, Pectus Excavatum, Short Stature, Pulmonary Stenosis

Question 5

Pierre Robin Syndrome

Answer 5

Micrognathia, Posterior displacement of tongue, Cleft palate

Question 6

Prader-Willi Syndrome

Answer 6

Hypotonia, Hypogonadism, Obesity

Question 7

William’s Syndrome

Answer 7

Short Stature, Learning difficulties, Friendly and extroverted, transient neonatal hypercalcaemia, supravalvular aortic stenosis

Question 8

Trisomy 13

Microcephaly, Small eyes, Polydactyly, Scalp Lesions

Answer 8

Patau Syndrome

Question 9

Trisomy 18

Micrognathia, Low-Set ears, rocker bottom feet, Overlapping of fingers

In utero ultrasound findings: Cardiac malformations, choroid plexus cysts, neural tube defects, abnormal hands and feet, small placenta

Answer 9

Edward’s Syndrome

Question 10

Usually CCG repeat in FMR1 Gene.

Learning Difficulties, Macrocephaly, Long Face, Large Ears, Macro-orchidism

Answer 10

Fragile X

Question 11

Webbed neck, Pectus Excavatum, Short Stature, Pulmonary Stenosis

Answer 11

Noonan Syndrome

Question 12

Micrognathia, Posterior displacement of tongue, Cleft palate

Answer 12

Pierre-Robin Syndrome

Question 13

Hypotonia, Hypogonadism, Obesity

Answer 13

Prader-Willi Syndrome

Question 14

Short Stature, Learning difficulties, Friendly and extroverted, transient neonatal hypercalcaemia, supravalvular aortic stenosis

Answer 14

William’s Syndrome

Question 15

Turner’s Syndrome

Answer 15

Only one sex hormone in female or the deletion of short arm of one of the X chromosomes

Webbed neck
Wide spaced ears 
aortic - bicuspid valve and coarctation 
amenorrhoea
high arched palate

Question 16

When is nucal scan done?

Three Causes of increased nuchal translucency?

Answer 16

Nuchal Scan: 11 - 13 weeks

Causes:

• Down’s Syndrome
• Congenital Heart Defect
• Abdominal Wall Defect

Question 17

Three causes of hyperechogenic boweL?

Answer 17

Causes:

• Cystic Fibrosis
• Down’s syndrome
• CMV infection