Autosomal Dominant Flashcards

1
Q

Achondroplasia

A

autosomal dominant

most common skeletal dyplasia

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2
Q

Achodroplasia

frequency

A

1/15,000

1/40,000

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3
Q

Achondroplasia

new mutation rate

A

80%

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4
Q

Achodroplasia

is homozygous domiinant compatible with lfe?

A

no

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5
Q

Achodroplasia

penetrance

A

100%

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6
Q

What explains an autosomal dominant disorder seen in a child without affected parents

A

De novo

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7
Q

Clinical manifestations of achondroplasia

Stature?

A

Small stature

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8
Q

Clinical manifestation of achondroplasia

Limbs and digits?

A
Rhizomelic limb shortening 
shorts fingers
genu varum (bowing of legs)
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9
Q

Tuberous sclerosis

Clinical criteria require?

A

Two major features or one major feature with 2 minor features

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10
Q

Tuberous sclerosis

What are major features?

A

Angiofibromas

Cardiac rhabodymyoma

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