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Hypophosphatasia

S Imai, S Sekigawa, H Yamamoto

    Acta Pathologica Japonica
    |September 1, 1982
    PubMed
    Summary
    This summary is machine-generated.

    Lethal hypophosphatasia in a fetus was diagnosed prenatally due to absent bone calcification. Autopsy confirmed skeletal abnormalities and extremely low alkaline phosphatase, indicating an autosomal recessive disorder.

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    Area of Science:

    • Perinatology
    • Genetics
    • Skeletal Dysplasias

    Background:

    • Hypophosphatasia is a rare inherited metabolic disorder affecting bone mineralization.
    • The lethal form presents severe skeletal abnormalities incompatible with life.

    Observation:

    • A 40-week female fetus was diagnosed prenatally via X-ray showing lack of whole bone calcification.
    • Autopsy revealed a decreased chest diameter and significantly shortened extremities.

    Findings:

    • Serum analysis showed extremely low alkaline phosphatase levels.
    • Microscopic examination demonstrated severe calcification retardation in bone trabeculae.
    • Family pedigree indicated an autosomal recessive inheritance pattern with heterozygous parents.

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    Implications:

    • This case highlights the importance of prenatal diagnosis for lethal hypophosphatasia.
    • Understanding the genetic basis aids in genetic counseling for affected families.
    • Further research into the pathophysiology of this severe skeletal dysplasia is warranted.