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Related Experiment Videos

[Menkes syndrome with excessive skeletal changes].

H Wendler, I Mutz

    Rofo : Fortschritte Auf Dem Gebiete Der Rontgenstrahlen Und Der Nuklearmedizin
    |September 1, 1985
    PubMed
    Summary

    Menkes'kinky hair disease, a rare connective tissue disorder, presented in an infant with multiple fractures and unusual bone thickening. This condition, caused by decreased copper bioavailability, ultimately proved fatal.

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    Area of Science:

    • Pediatric Radiology
    • Medical Genetics
    • Connective Tissue Disorders

    Background:

    • Infantile fractures can mimic non-accidental trauma.
    • Menkes'kinky hair disease is a rare genetic disorder affecting copper metabolism.

    Observation:

    • An infant presented with multiple fractures at 10 weeks of age.
    • Marked cortical thickening was noted in numerous bones, initially suggesting child abuse.
    • Atypical bone remodeling patterns were observed.

    Findings:

    • The observed bone abnormalities, including excessive remodeling, were characteristic of Menkes'kinky hair disease.
    • This diagnosis was confirmed, highlighting the disease's impact on bone development.
    • Menkes'kinky hair disease is linked to impaired copper bioavailability.

    Implications:

    • This case underscores the importance of considering rare genetic disorders in the differential diagnosis of infantile fractures.
    • Recognizing unusual bone remodeling is crucial for accurate diagnosis of Menkes'kinky hair disease.
    • Understanding copper's role in connective tissue health is vital for managing related disorders.

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