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Ectopic calcification in hypophosphatasia.

J D Macfarlane, H M Kroon, A Cats

    European Journal of Radiology
    |August 1, 1986
    PubMed
    Summary
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    Radiological findings in hypophosphatasia, including joint and spinal calcification, can suggest a familial link. These signs may indicate a heterozygous state in relatives, warranting further genetic investigation.

    Area of Science:

    • Medical Imaging
    • Genetics
    • Metabolic Bone Disease

    Background:

    • Hypophosphatasia is a rare inherited metabolic bone disorder.
    • Radiographic manifestations are key to diagnosis and understanding disease spectrum.

    Observation:

    • A 24-year-old female presented with frayed joint surfaces and calcifications.
    • Radiological findings included intra- and peri-articular, and paravertebral calcification.

    Findings:

    • Comparison with typical hypophosphatasia radiographic findings led to a family study.
    • Excessive spinal osteophytosis and/or chondrocalcinosis were frequent in relatives.

    Implications:

    • These skeletal changes may indicate the heterozygous state for hypophosphatasia.

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  • Suggests potential for carrier screening and genetic counseling in affected families.