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CAPT. JEROME L. SILVERMAN, USAF (MC)

Arch Intern Med. 1962;110(2):191-198.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

Since the establishment of hypophosphatasia as a syndrome in 1948 by Rathbun,¹ this disease has come to be recognized as a genetically determined inborn error of metabolism with its primary features being: reduced activity of serum and tissue alkaline phosphatase, abnormal mineralization of bone, and phosphoethanolaminuria.² The genetic mechanisms of hypophosphatasia are as yet undetermined, and it is the purpose of this report to describe a family in which documented hypophosphatasia is present in the father and 2 of his sons, suggesting the possibility of dominant inheritance.

Pedigree of the Present Study

Figure 1 illustrates the family tree in this study so far as it can be accurately determined. The father (II-3) and 2 of his sons (III-8 and III-9) have been investigated extensively, while the mother (II-7) and the remaining sibs (III-6 and III-7) have been subjected to routine studies in an attempt to determine their genotypes. . . . [Full Text PDF of this Article]

Author Affiliations
Chief, Radiology Department, USAF Hospital, Davis-Monthan Air Force Base, Ariz.

Footnotes
Submitted for publication Dec. 7, 1961.

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