Misc Flashcards

1
Q

Achondroplasia
Gene
Inheritance
What is the lethal form called

A

FGGR3
AD
Thanatrophoric dysplasia

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2
Q

Achondroplasia
Limb features
Facial features
Other features

A

Dwarfism with short proximal limbs
Trident hand
Big head with frontal bossing and hypoplasia of the mid face
Low IQ, spinal stenosis and delayed motor milestones

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3
Q

Hypochondroplasia

How is it different to achondroplasia

A

Less common, less difference between limbs and the trunk. More likely to have lowered IQ

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