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The thanatophoric dwarf. A report on two cases

C R Staalman

    Radiologia Clinica
    |January 1, 1976
    PubMed
    Summary

    Thanatophoric dwarfism presents unique skeletal changes, often indistinguishable from other dwarfism types externally. Radiological examination is crucial for diagnosis, especially in utero, as the condition is invariably fatal.

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    Area of Science:

    • Medical Genetics
    • Skeletal Dysplasias
    • Prenatal Diagnosis

    Background:

    • Thanatophoric dwarfism (TD) is a severe skeletal dysplasia.
    • External examination often fails to differentiate TD from achondroplasia and other disproportionate dwarfisms.
    • Prenatal diagnosis is possible, but the condition is invariably fatal.

    Observation:

    • Two cases of thanatophoric dwarfism are presented.
    • Radiological examination revealed characteristic skeletal changes.
    • Associated anomalies included bilateral radioulnar synostosis in one case and cranial suture synostosis in the other.

    Findings:

    • Radiological findings are key to diagnosing thanatophoric dwarfism.
    • TD can be diagnosed prenatally.
    • The clinical course of thanatophoric dwarfism is invariably fatal.

    Implications:

    • Radiological examination is vital for diagnosing unexplained hydramnion and perinatal death.
    • Further research is needed to understand the hereditary aspects of TD for genetic counseling.
    • Early and accurate diagnosis through imaging aids in parental genetic counseling and management decisions.

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