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Fifty-Year Follow-up of Hypophosphatasia

Robert S. Weinstein, MD; Michael P. Whyte, MD
Arch Intern Med. 1981;141(12):1720-1721. doi:10.1001/archinte.1981.00340130158037.
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To the Editor.  —We recently reported heterogeneity of adult hypophosphatasia in the Archives (1981;141:727-731) and would like to record additional information on the natural history of this disorder. After the publication of our article, case 1 (shown in our article from age 18 to 50 years in a composite photograph) was recognized by Dr John A. Owen, Jr, from the University of Virginia School of Medicine, Charlottesville, as a patient he and Dr Herman Peskin described with adult hypophosphatasia in 1958.1 Doctor Owen kindly sent us photographs of the patient's roentgenograms from 1931 (taken when she was age 3½ years) that showed changes consistent with childhood hypophosphatasia (Figure).2 Further inquiry disclosed that she had "crooked arms" but was otherwise normal at birth, did not walk until age 2 to 3 years, had premature loss of primary dentition, and received vitamin D therapy at age 3½, since these roentgenographic


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