Random Flashcards

1
Q

Severe hypothermia

A

32 degs c

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2
Q

Brisk Moro réflex

A

Hypoglycaemia

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3
Q

Hypophosphatemic rickets

A

X linked dominant

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4
Q

William syndrome

A

Micro deletion 7q11.23
Supra valvular aortic stenosis

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5
Q

Turner

A

Bicuspid aortic valves

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6
Q

Patau
Edward

A

Vsd
PDA
Asd

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7
Q

Down syndrome

A

Endocardial cushion defect/atrioventricular septal defect
Vsd
Asd

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8
Q

Prader willi

A

Deletion of 15q11-13

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9
Q

Angelman

A

Deletion 15q11-12

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10
Q

Congenital rubella

A

Pda
Pulmonary artery stenosis
Vsd

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11
Q

Hutchinson Triad

A

Hutchinson Teeth
Interstitial keratitis
Deafness

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12
Q

Zika eye symptoms

A

Microphthalmia
Pigment retinal mottling
Colobama/cataract
Retinal thinning
Macular scarring

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13
Q

Zika diagnosis

A

rRT-pcr
Igm
Prnd (plaque reduction neutralisation testing)

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14
Q

Meningomyocoele

A

Decrease tone of the muscles
Deep tendon reflexes lost
B/b incontinence
A/s with Arnold chiari type ii malformatjon

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15
Q

Aicardi syndrome

A

A genesis of corpus callosum
Choreo retinal lacunae
Infantile spasms

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16
Q

Type ii arnold chiari

A

Hallmark for diagnosis
Herniation of inferior cerebellar vermis, pons, medulla, and fourth ventricle