Paediatrics Flashcards by Mathew Hamula

Q

flattened facial features, wide set eyes, syndactyly

A

Apert’s syndrome

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Q

keratan sulfate

A

Morquio’s syndrome

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Q

waddling gait, genu valgum, thoracic kyphosis, cloudy cornease, normal intelligence

A

Morquio’s syndrome

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Q

only mucopolysacchardiosis that is not AR

A

Hunter’s, x-linked inheritance

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Q

triad of low hairline, webbed neck, limited cervical spine motion due to congenitally fused cervical segments

A

Klippel-Feil syndrome

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