Adult-onset vitamin D-resistant hypophosphatemic osteomalacia. A possible variant of vitamin D-resistant rickets.
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.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002118:Calcium / Q000378:metabolism; D005260:Female; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010018:Osteomalacia / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D012729:Sex Chromosome Aberrations; D012730:Sex Chromosomes / Q000032:analysis
D002118:Calcium