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Apparent Dominant Inheritance of Hypophosphatasia

Arch Intern Med. 1962;110(2):191-198. doi:10.1001/archinte.1962.03620200051010.
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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.


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