Childhood syndromes Flashcards

1
Q

Patau syndrome (trisomy 13)

A

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

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2
Q

Edward’s syndrome (trisomy 18)

A

Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers

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3
Q

Fragile X

A
Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism
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4
Q

Noonan syndrome

A

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

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5
Q

Pierre-robin syndrome

A

Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate

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6
Q

Treacher-Collins syndrome

A

autosomal dominant
Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate

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7
Q

prader-willi syndrome

A

Hypotonia
Hypogonadism
Obesity

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8
Q

williams syndrome

A
Elfin like facies 
Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
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9
Q

Cri du chat syndrome (chromosome 5p deletion syndrome)

A

Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism

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10
Q

how do you diagnose Williams syndrome?

A

FISH studies

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