Abstract 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. References 1. Rathbun, J. C.: Hypophosphatasia: A New Developmental Anomaly , Amer. J. Dis. Child. 75:822-831, 1948.Crossref 2. Fraser, D.: Hypophosphatasia , Amer. J. Med. 22:730-746, 1957.Crossref 3. Bethune, J. E., and Dent, C. E.: Hypophosphatasia in the Adult , Amer. J. Med. 28:615-622, 1960.Crossref 4. Cusworth, D. C.: Personal communication to the author, 1960. 5. Dent, C. E.: Personal communication to the author, 1960. 6. Dent, C. E.: Personal communication to the author, 1960. 7. Schneider, R. W., and Corcoran, A. C.: Familial Nephrogenic Osteopathy Due to Excessive Tubular Reabsorbtion of Inorganic Phosphate: A New Syndrome and a Novel Mode of Relief , J. Lab. Clin. Med. 36:985-986, 1950. 8. Dent, C. E.: Foreword , Amer. J. Med. 22: 671-675, 1957.Crossref 9. McKusick, V. A.: Mechanisms in Genetic Diseases of Man , Amer. J. Med. 22:676-686, 1957.Crossref 10. Milch, R. A.: Direct Inheritance of Alcaptonuria , Metabolism 4:513-518, 1955.
Archives of Internal Medicine – American Medical Association
Published: Aug 1, 1962
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