Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
11 Cards in this Set
- Front
- Back
What percentage of achondroplasia cases are spontaneous mutations?
|
80%
|
|
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
|
hypotonia
|
|
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
|