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M2M2 > Down Syndrome > Flashcards

Down Syndrome Flashcards

1
Q

What percent due to tri21?

A

95%

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2
Q

If not tri21, what cause?

A

3-4% unbalanced translocation

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3
Q

Physical features

A

Midfacial hypoplasia
hypotonia
small ears
transverse palmar crease

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4
Q

Medical issues in DS

Cardiac %?

A

50%
AV canal common
Recommend echo

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5
Q

Medical issues in DS

GI structural anomalies%

A

10-15%

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6
Q

Medical issues in DS

Ophthalmologic?

A

cataracts
nystagmus
myopia
blocked tear ducts –>conjuctivitis

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7
Q

Medical issues in DS

ENT

A

Ear infect
Deaf (S or N)
Enlarged tonsiles -

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8
Q

Medical issues in DS

Endocrine

A

Thyroid disease 25%

Diabetes I

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9
Q

Medical issues in DS

Ortho

A

hips
joint subluxation
atlantoaxial subluxation - break neck!

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10
Q

Medical issues in DS

Hematology

A

Myeloproliferative
Leukemia - 12-20X
Iron deficiency

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11
Q

Medical issues in DS

neuro

A

hypotonia
seizures, infantile spasms
autism 1/10

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M2M2 (27 decks)

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