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The Journal of Bone and Joint Surgery, Vol 59, Issue 1 101-106, Copyright © 1977 by Journal of Bone and Joint Surgery, Inc

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Adult-onset vitamin D-resistant hypophosphatemic osteomalacia. A possible variant of vitamin D-resistant rickets

JW Frymoyer and W Hodgkin

A family of 133 members showing unusual manifestations of vitamin D-resistant hypophosphatemic osteomalacia was studied. The hypophosphatemic children did not have rickets or clinical femoral bowing: the hypophosphatemic young adults had minimum clinically evident femoral bowing; and the older adults (age forty and older) were progressively disabled by severe bowing. The disorder appears to be an X-linked dominant, with almost complete penetrance of the hypophosphatemic trait. The etiology of this disorder could not be determined.
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