Neonates and Congenital Abnormalities

Question 1

What is the most common cause of conjugated jaundice which requires urgent referral?

Answer 1

Biliary atresia

Question 2

Give 3 causes of unconjugated jaundice

Answer 2

1. Physiological
2. Breast milk jaundice
3. Haemolytic disease (Rhesus)

Question 3

What is the definition of prolonged jaundice and how may it be treated?

Answer 3

Visible jaundice presenting >14 days in term baby and >21 days in preterm infant

Tx:

• Phototherapy
• Exchange transfusion

Question 4

Give 4 causes of respiratory distress syndrome

Answer 4

1. Transient tachypnoea (1st 8 hours)
2. Respiratory distress syndrome (surfactant deficiency)
3. Meconium aspiration
4. Pneumothorax

Question 5

Give 3 causes of cyanosis in a newborn

Answer 5

1. Anything which causes respiratory distress
2. Congenital cyanotic heart disease
3. Tracheo-oesophageal fistula

Question 6

Give 2 risks of neonatal sepsis

Answer 6

Premature rupture of membranes

Maternal infection (e.g. Group B strep.)

Question 7

Give 4 ways in which a neonate with sepsis may present

Answer 7

• Collapse
• Apnoea
• Seizure
• Jaundice

Question 8

What is bilious stained vomiting presumed to be until proven otherwise?

Answer 8

Intestinal obstruction

Question 9

Give 4 common GI disorders occurring in neonates

Answer 9

1. Meconium plug/ileus
2. Duodenal atresia
3. Oesophageal atresia
4. Malrotation with volvulus

Question 10

Define anencephaly

Answer 10

Portion of scalp, skull and cerebral hemispheres do not develop

Question 11

Define encephalocele

Answer 11

Protrusion of brain and meningitis through midline skull defect

Question 12

Define microcephaly

Answer 12

Small head due to incomplete brain development or arrest of growth

Question 13

What is a sacral pit?

Answer 13

Dimple over the sacrum, usually benign

Question 14

At what age is a cleft lip repaired?

Answer 14

3 months old

Question 15

At what age is a cleft palate repaired?

Answer 15

6-12 months old

Question 16

Give 3 complications of a cleft lip and/or palate

Answer 16

• Feeding interference
• Speech problems
• Aspiration pneumonia

Question 17

What are preauricular pits weakly associated with?

Answer 17

Renal abnormalities

Question 18

Give 3 symptoms of trachea-oesophageal fistula

Answer 18

• Coughing/chocking at feeding
• Abdominal distension
• Recurrent chest infections

Question 19

How is a trachea-oesophageal fistula diagnosed and treated?

Answer 19

Dx: bronchoscopy and contrast study of oesophagus

Tx: surgery

Question 20

How does duodenal atresia present and what sign is seen on abdominal film?

Answer 20

Bilious vomiting shortly after birth

“Double bubble” sign on AXR

Question 21

What is exomphalos?

Answer 21

Hernia at base of umbilical cord covered by sac

Question 22

What is gastroschisis?

Answer 22

Defect in abdomen to right of umbilicus, causing protrusion of abdominal contents not covered by sac

Question 23

In exophalos/gastroschisis, why is surgical repair often done in stages?

Answer 23

As the abdomen is too small to hold the bowel

Question 24

What is hypospadias and when is surgical repair carried out?

Answer 24

Urethral opening on underside of penis

Repair at 12-18 months

Question 25

Give 3 presentations of imperforate anus

Answer 25

- Failure to pass meconium - Bilious vomiting - Abdominal distension

Question 26

Which side do diaphragmatic hernia's occur on 90% of the time?

Answer 26

Left

Question 27

Give 2 presentations of a diaphragmatic hernia in neonates

Answer 27

Apparent dextrocardia Respiratory distress at birth

Question 28

What type of condition is achondroplasia and on which chromosome does it occur?

Answer 28

Autosomal dominant on 4p16

Question 29

Give 4 features of an achondroplastic child

Answer 29

- Short limbs - Frontal bossing - Lumbar lordosis - Trident hand

Question 30

Give 3 facial features seen in Down's syndrome

Answer 30

- Prominent epicanthic folds - Protruding tongue - Flat nose

Question 31

Which 3 heart defects are common in Down's syndrome?

Answer 31

- Atrioventricular septal defect - VSD - Tetralogy of Fallot

Question 32

Name 3 GI conditions which Down syndrome babies are more at risk of

Answer 32

- Duodenal atresia - Imperforate anus - Hirschprung's disease

Question 33

Name 3 features seen on examination of a child with Down's syndrome

Answer 33

- Hypotonia - Single palmar crease - Short stature

Question 34

Give 3 complications of Down's syndrome

Answer 34

- Increased AML/ALL risk - Hypothyroidism - OSA

Question 35

What is Edward's syndrome and give 3 features

Answer 35

Trisomy 18 - Microcephaly - Low set ears - Cardiac issues

Question 36

What is Patau's syndrome and give 3 features

Answer 36

Trisomy 13 - Holoprosencephaly - Polydactyly - Structural eye defects

Question 37

What is Turner's syndrome and give 3 features

Answer 37

Missing X chromosome - Webbed neck - Coarctation of aorta - Lack of secondary sexual development

Question 38

What is Klinefelter's syndrome and give 3 features

Answer 38

XXY chromosome - Infertility - Hypogonadism - Gynaecomastia

Question 39

What is Fragile X syndrome and give 3 features

Answer 39

Change to gene on X - Learning difficulty - Long face - Macro-orchidism

Question 40

Which intrauterine infections can cause birth defects (TORCH)?

Answer 40

``` Toxoplasmosis Other (syphilis) Rubella Cytomegalovirus Herpes simplex virus ```

Question 41

Give 3 features of a baby with foetal alcohol syndrome

Answer 41

- Microcephaly - Absent philtrum - Learning difficulties

Question 42

Give 5 teratogenic drugs

Answer 42

1. Phenytoin 2. Sodium valproate/carbamazepine 3. Lithium 4. Warfarin 5. Tetracycline

Question 43

Give 3 physical features of Prader Willi Syndrome

Answer 43

- Almond shaped eyes - Small hands and feet - Hypogonadism

Question 44

Give 2 features of Prader Willi Syndrome at birth

Answer 44

- Hypotonia | - Feeding problems

Question 45

Give 2 features of Prader Willi Syndrome in childhood

Answer 45

- Hyperphagia | - Obesity