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Larsen's syndrome;.

F W Robertson, K Kozlowski, R W Middleton

    Clinical Pediatrics
    |January 1, 1975
    PubMed
    Summary
    This summary is machine-generated.

    This study describes three cases of Larsen syndrome, a rare genetic disorder. Diagnosis was confirmed through characteristic clinical and radiographic signs, including joint dislocations and facial differences.

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    Area of Science:

    • Medical Genetics
    • Skeletal Dysplasias
    • Pediatric Orthopedics

    Background:

    • Larsen syndrome is a rare congenital disorder affecting connective tissue and skeletal development.
    • It presents with characteristic joint dislocations, facial abnormalities, and other skeletal anomalies.
    • Early and accurate diagnosis is crucial for managing associated complications.

    Purpose of the Study:

    • To present three retrospective cases of Larsen syndrome.
    • To highlight the diagnostic utility of clinical and radiographic findings.
    • To document specific radiographic features observed in these cases.

    Main Methods:

    • Retrospective case review of three patients diagnosed with Larsen syndrome.
    • Clinical examination to identify characteristic physical features.

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  • Radiographic imaging (X-rays) to assess skeletal abnormalities.

    • Main Results:

    • All three patients exhibited classic Larsen syndrome features: flat, hyperteloric facies, multiple joint dislocations, club foot, and long, cylindrical fingers.
    • Radiographic findings were generalized and diagnostic across all cases.
    • A notable finding was the presence of additional ossification centers in the calcaneus body in these patients.

    Conclusions:

    • Larsen syndrome diagnosis is supported by a combination of characteristic clinical and radiographic signs.
    • Radiographic assessment is essential for confirming the diagnosis and understanding the extent of skeletal involvement.
    • The presence of additional ossification centers in the calcaneus may be a specific radiographic marker in some Larsen syndrome cases.