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4p- (Wolf-Hirschhorn) syndrome.

H L Magill, G D Shackelford, W H McAlister

    AJR. American Journal of Roentgenology
    |August 1, 1980
    PubMed
    Summary

    4p- syndrome, a genetic disorder caused by chromosome 4 structural deficiency, presents distinct radiologic features. These include pelvic underdevelopment and cervical spine ossification issues, aiding diagnosis when combined with clinical signs.

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    Area of Science:

    • Genetics
    • Radiology
    • Pediatrics

    Background:

    • 4p- syndrome, also known as Wolf-Hirschhorn syndrome, is a rare genetic disorder.
    • It arises from a partial deletion on the short arm of chromosome 4 (4p-).
    • The syndrome is characterized by a wide spectrum of clinical manifestations and developmental delays.

    Purpose of the Study:

    • To present clinical and radiologic findings in three patients diagnosed with 4p- syndrome.
    • To summarize and analyze radiologic features from previously reported cases.
    • To highlight key diagnostic indicators for 4p- syndrome.

    Main Methods:

    • Case study of three patients with 4p- syndrome.
    • Review and synthesis of clinical, genetic, and radiologic data from existing literature.
    • Comparative analysis of radiologic findings.

    Main Results:

    • Prominent radiologic findings include widened interpubic distance and underdevelopment of the bony pelvis.
    • Deficiencies in cervical spine ossification were observed in the presented cases.
    • Individual radiologic findings have limited diagnostic specificity.

    Conclusions:

    • The combination of specific radiologic abnormalities with characteristic clinical features strongly suggests 4p- syndrome.
    • Radiographic findings, particularly pelvic and cervical spine anomalies, are valuable diagnostic clues.
    • Karyotyping remains essential for confirming the diagnosis of 4p- syndrome.

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