Clinical Features of Hereditary Resistance to 1,25-Dihydroxyvitamin D (Hereditary Hypocalcemic Vitamin D Resistant Rickets Type II)
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In 1937 Albright and co-workers described a patient with hypophosphatemic rickets resistant to vitamin D therapy.1 They illustrated for the first time the concept that a state of hormone or vitamin deficiency could be caused by a defect in the tissue response to a factor rather than by reduced concentrations of that factor. In 1961 Prader and associates described a group of children with hypocalcemic rickets unresponsive to physiological doses of vitamin D (calciferol) but responsive to and dependent upon pharmacological doses of the vitamin.2 The terms pseudo-vitamin D deficiency or vitamin D dependency have been used interchangeably to describe this disorder.
KeywordsHypophosphatemic Rickets Amelogenesis Imperfecta Normal Hair Outer Root Sheath Cell Total Alopecia
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