Paeds Flashcards

1
Q

What is talipes equinovarus

A

Inverted and plantar flexed foot which isn’t passively correctable

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2
Q

Management of talipes

A

Ponseti method - manipulation and progressive casting usually for 6-10 weeks
May need Achilles tenotomy
Night braces until aged 4y

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3
Q

Systemic onset juvenile idiopathic arthritis (Still’s disease) features

A

Pyrexia
Salmon pink rash
Lymphadenopathy
Arthritis
Uveitis
Anorexia and weight loss

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4
Q

Still’s disease investigations

A

ANA may be positive
Rheumatoid factor usually negative

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5
Q

Juvenile idiopathic arthritis criteria

A

Less than 16 years old lasting for more than 6 weeks

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6
Q

Fragile X

A

Inherited CGG repeat on X chromosome

Macrocephaly
Prominent ears and jaw
Learning difficulties, behavioural problems
Macro-orchidism

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7
Q

Patau syndrome

A

Trisomy 13

Severe congenital malformations
Microcephaly
Cleft lip/palate
Polydactyly
Cardiac defects
Severe intellectual disability
Most infants don’t survive beyond infancy

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8
Q

Pierre-Robin syndrome

A

Micrognathia
Glossoptosis
Airway obstruction

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9
Q

Edward’s syndrome

A

Trisomy 18

Slow growth
Severe intellectual disability
Microcephaly
Overlapping fingers
Rocker bottom feet
Congenital heart disease
Micrognathia
Low-set ears

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10
Q

William’s syndrome

A

Learning difficulties
Broad forehead
Short nose
Friendly, extrovert personality
Supravalvular aortic stenosis
Transient neonatal hypercalcaemia

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11
Q

Noonan syndrome

A

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

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12
Q

Prader-Willi syndrome

A

Hypotonia
Hypogonadism
Obesity

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13
Q

Cri du chat syndrome

A

Chromosome 5p deletion

Characteristic cry
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathia
Hypertelorism (large gap between eyes)

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14
Q

Ophthalmia neonatorum

A

Purulent discharge, conjunctival injection
Same day ophthalmology referral
Likely causative organisms - chlamydia, gonorrhoea

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15
Q

Caput succedaneum

A

Forms over the vertex and crosses suture lines
Soft and puffy swelling
Resolves within days

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16
Q

Cephalohaematoma

A

Most commonly in parietal region
Doesn’t cross suture lines
Resolves in months