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Upper extremity involvement in Trevor disease.

E M Azouz, A M Slomic, H Archambault

    Journal of the Canadian Association of Radiologists
    |June 1, 1984
    PubMed
    Summary
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    We describe a rare case of Trevor disease (dysplasia epiphysealis hemimelica) in a young child, affecting the arm and leg. This bone growth disorder rarely involves the upper limb.

    Area of Science:

    • Pediatric Orthopedics
    • Skeletal Dysplasias
    • Medical Genetics

    Background:

    • Trevor disease, or dysplasia epiphysealis hemimelica (DEH), is a rare congenital disorder characterized by abnormal cartilaginous and osseous proliferation within an epiphysis.
    • It typically affects the lower extremities, with upper limb involvement being exceptionally uncommon.

    Observation:

    • A 29-month-old female presented with symptoms indicative of Trevor disease.
    • The condition involved the left humeral head and the ipsilateral lower extremity, a highly unusual presentation.

    Findings:

    • The patient's Trevor disease demonstrated extensive involvement of the upper limb, specifically the humeral head.
    • Advanced bone age was noted in the affected left upper extremity and ipsilateral lower extremity.

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    Implications:

    • This case highlights the variability in presentation of Trevor disease, emphasizing that upper limb involvement, though rare, can occur.
    • Understanding such rare presentations is crucial for accurate diagnosis and management of skeletal dysplasias in pediatric patients.
    • Further research into the genetic and developmental factors contributing to atypical Trevor disease presentations may be warranted.