Achondroplasia Flashcards
1
Q
Inheritance
A
Autosomal DOMINANT
2
Q
Characteristic feature
A
Short stature
3
Q
Gene mutation
A
fibroblast growth factor receptor 3 (FGFR-3) gene
4
Q
in achondroplasia, the mutated gene causes abnormal cartilage. What physical features does this give rise to?
A
short limbs + shortened fingers
large head with frontal bossing + narrow foramen magnum
midface hypoplasia with a flattened nasal bridge
‘trident’ hands
lumbar lordosis
5
Q
In most cases, achondroplasia occurs due to a sporadic mutation. TRUE/FALSE?
A
TRUE (approximately 70%)
6
Q
Main risk factor for sporadic achondroplasia
A
advancing parental age at the time of conception
7
Q
Treatment of achondroplasia
A
no specific therapy
some individuals benefit from limb lengthening procedures
8
Q
A
