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Paediatrics > Neonates and Congenital Abnormalities > Flashcards

Neonates and Congenital Abnormalities Flashcards

1
Q

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

A

Biliary atresia

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2
Q

Give 3 causes of unconjugated jaundice

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

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

A

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

Tx:

  • Phototherapy
  • Exchange transfusion
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4
Q

Give 4 causes of respiratory distress syndrome

A
  1. Transient tachypnoea (1st 8 hours)
  2. Respiratory distress syndrome (surfactant deficiency)
  3. Meconium aspiration
  4. Pneumothorax
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5
Q

Give 3 causes of cyanosis in a newborn

A
  1. Anything which causes respiratory distress
  2. Congenital cyanotic heart disease
  3. Tracheo-oesophageal fistula
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6
Q

Give 2 risks of neonatal sepsis

A

Premature rupture of membranes

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

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7
Q

Give 4 ways in which a neonate with sepsis may present

A
  • Collapse
  • Apnoea
  • Seizure
  • Jaundice
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8
Q

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

A

Intestinal obstruction

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9
Q

Give 4 common GI disorders occurring in neonates

A
  1. Meconium plug/ileus
  2. Duodenal atresia
  3. Oesophageal atresia
  4. Malrotation with volvulus
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10
Q

Define anencephaly

A

Portion of scalp, skull and cerebral hemispheres do not develop

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11
Q

Define encephalocele

A

Protrusion of brain and meningitis through midline skull defect

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12
Q

Define microcephaly

A

Small head due to incomplete brain development or arrest of growth

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13
Q

What is a sacral pit?

A

Dimple over the sacrum, usually benign

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14
Q

At what age is a cleft lip repaired?

A

3 months old

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15
Q

At what age is a cleft palate repaired?

A

6-12 months old

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16
Q

Give 3 complications of a cleft lip and/or palate

A
  • Feeding interference
  • Speech problems
  • Aspiration pneumonia
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17
Q

What are preauricular pits weakly associated with?

A

Renal abnormalities

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18
Q

Give 3 symptoms of trachea-oesophageal fistula

A
  • Coughing/chocking at feeding
  • Abdominal distension
  • Recurrent chest infections
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19
Q

How is a trachea-oesophageal fistula diagnosed and treated?

A

Dx: bronchoscopy and contrast study of oesophagus

Tx: surgery

20
Q

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

A

Bilious vomiting shortly after birth

“Double bubble” sign on AXR

21
Q

What is exomphalos?

A

Hernia at base of umbilical cord covered by sac

22
Q

What is gastroschisis?

A

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

23
Q

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

A

As the abdomen is too small to hold the bowel

24
Q

What is hypospadias and when is surgical repair carried out?

A

Urethral opening on underside of penis

Repair at 12-18 months

25
Q

Give 3 presentations of imperforate anus

A
  • Failure to pass meconium
  • Bilious vomiting
  • Abdominal distension
26
Q

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

A

Left

27
Q

Give 2 presentations of a diaphragmatic hernia in neonates

A

Apparent dextrocardia

Respiratory distress at birth

28
Q

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

A

Autosomal dominant on 4p16

29
Q

Give 4 features of an achondroplastic child

A
  • Short limbs
  • Frontal bossing
  • Lumbar lordosis
  • Trident hand
30
Q

Give 3 facial features seen in Down’s syndrome

A
  • Prominent epicanthic folds
  • Protruding tongue
  • Flat nose
31
Q

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

A
  • Atrioventricular septal defect
  • VSD
  • Tetralogy of Fallot
32
Q

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

A
  • Duodenal atresia
  • Imperforate anus
  • Hirschprung’s disease
33
Q

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

A
  • Hypotonia
  • Single palmar crease
  • Short stature
34
Q

Give 3 complications of Down’s syndrome

A
  • Increased AML/ALL risk
  • Hypothyroidism
  • OSA
35
Q

What is Edward’s syndrome and give 3 features

A

Trisomy 18

  • Microcephaly
  • Low set ears
  • Cardiac issues
36
Q

What is Patau’s syndrome and give 3 features

A

Trisomy 13

  • Holoprosencephaly
  • Polydactyly
  • Structural eye defects
37
Q

What is Turner’s syndrome and give 3 features

A

Missing X chromosome

  • Webbed neck
  • Coarctation of aorta
  • Lack of secondary sexual development
38
Q

What is Klinefelter’s syndrome and give 3 features

A

XXY chromosome

  • Infertility
  • Hypogonadism
  • Gynaecomastia
39
Q

What is Fragile X syndrome and give 3 features

A

Change to gene on X

  • Learning difficulty
  • Long face
  • Macro-orchidism
40
Q

Which intrauterine infections can cause birth defects (TORCH)?

A 
Toxoplasmosis 
Other (syphilis)
Rubella 
Cytomegalovirus
Herpes simplex virus
41
Q

Give 3 features of a baby with foetal alcohol syndrome

A
  • Microcephaly
  • Absent philtrum
  • Learning difficulties
42
Q

Give 5 teratogenic drugs

A
  1. Phenytoin
  2. Sodium valproate/carbamazepine
  3. Lithium
  4. Warfarin
  5. Tetracycline
43
Q

Give 3 physical features of Prader Willi Syndrome

A
  • Almond shaped eyes
  • Small hands and feet
  • Hypogonadism
44
Q

Give 2 features of Prader Willi Syndrome at birth

A
  • Hypotonia

- Feeding problems

45
Q

Give 2 features of Prader Willi Syndrome in childhood

A
  • Hyperphagia

- Obesity

Paediatrics (18 decks)

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