Phenotypically dissimilar hypophosphatasia in two sibships

Authors

  • J. D. Macfarlane,

    Corresponding author
    1. Departments of Rheumatology and Diagnostic Radiology, University Hospital, Leiden, The Netherlands
    • Department of Rheumatology, University Hospital, Building 1, C2-Q, P.O. Box 9600, 2300 RC Leiden, The Netherlands
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  • H. M. Kroon,

    1. Departments of Rheumatology and Diagnostic Radiology, University Hospital, Leiden, The Netherlands
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  • J. J. van der Harten

    1. Department of Pathology, Free University, Amsterdam, The Netherlands
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Abstract

Autosomal dominant and autosomal recessive forms of hypophosphatasia have been reported; generally the clinical picture runs true to form in families. In each of 2 kindreds, 2 sibs were clinically affected by hypophosphatasia to a markedly different extent. One set of sibs showed the lethal (perinatal) and infantile forms. The other showed the dental and adult forms. In both families there was consanguinity, albeit distant, and clinical expression in sibs supporting autosomal recessive inheritance.

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