Rahel K. Steinhauser, M.D.; Charles I. Scott Jr., M.D.; Jane A. Mays; Victor A. McKusick, M.D., F.A.C.P.
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A large group of adults, including several family groups, with vitamin-D-resistant hypophosphatemic rickets have been studied. Ankylosing spondylosis, as well as boney fusion and restricting periarticular osseous changes in the extremities are crippling manifestations in the untreated adult male. Females heterozygous for the X-borne gene responsible for this disorder show wide variability in all the manifestations of the disorder, consistent with the Lyon principle. Some females show hypertrophic skeletal changes similar to those of affected males but rarely in such extreme form. Since both vitamin D and parathyroid hormone are necessary for normal mobilization of bone and since immunoassay shows
Steinhauser RK, Scott CI, Mays JA, McKusick VA. Ankylosing Spondylosis in Familial Hypophosphatemia.. Ann Intern Med. ;72:811. doi: 10.7326/0003-4819-72-5-811_1
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Published: Ann Intern Med. 1970;72(5):811.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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