FAMILIAL X-LINKED HYPOPHOSPHATEMIC RICKETS Flashcards
1
Q
characterized by?
A
low serum phosphate
2
Q
unresponsive or responsive to UV light or vitamin D therapy?
A
unresponsive
3
Q
describe XLH?
A
autosomal dominant
mutation of phosphate, regulating endopeptidase homologue gene on x-chromosome aka PHEX
4
Q
phenotype?
A
isolated hypophosphatemia
severe lower extremity bowing
growth retardation/short stature
OM
bone pain
calcific enthesopathy of tendons
dental abscesses
5
Q
radiologic findings?
A
proximal-flaring of iliac wings
extremities-trapezoidal distal femoral condyles
foot-shortening of the talar neck, flattening of talar dome
looser’s zones
