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11 Cards in this Set

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  • Back
What percentage of achondroplasia cases are spontaneous mutations?
What mutation is associated with achondroplasia?
point mutation in fibroblast growth factor receptor 3
How is achondroplasia diagnosed?
radiographic findings: narrowing of skull base, rhizomelic shortening of long bones, flattened vertebral bodies, square shape to pelvis, radiolucency of prox femora
What do the vertebral bodies look like on x-ray in achondroplasia?
flattened with lack of increase in interpediculate distance in lumbar spine
What hand abnormality is associated with achondroplasia?
fingers are tapered and there is a gap between fingers 3 and 4--a "trident configuration"
what delays do children iwth achondroplasia have?
usually motor and speech
neurologic findings in kids with achondroplasia
7% of kids with achondroplasia die in first year of....
cervicomedullary junction compression due to abnormal shape or size of foramen magnum
what are the signs of cervicomedullary junction compression to be looked for on exam?
respiratory problems, exaggerated hypotonia, hyperreflexia, weakness, asymmetric reflexes and ankle clonus
How do you test for cervicomedullary junction compression?
MRI with studies of CSF flow
stigmata of achondroplasia
macrocephaly with frontal bossing and midface hypoplasia, short stature, exaggerated lumbar lordosis