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Pentasomy X with multiple dislocations.

R F Dryer, S R Patil, H U Zellweger

    American Journal of Medical Genetics
    |January 1, 1979
    PubMed
    Summary
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    Pentasomy X, a rare genetic condition, can cause multiple dislocations. This case highlights a unique shoulder dislocation due to glenoid hypoplasia, not previously reported in Pentasomy X patients.

    Area of Science:

    • Genetics
    • Orthopedics
    • Pediatrics

    Background:

    • Pentasomy X (49,XXXXX) is a rare chromosomal abnormality.
    • Multiple dislocations are a known, but not fully characterized, feature of Pentasomy X.
    • Larsen syndrome is a differential diagnosis for patients with multiple dislocations.

    Observation:

    • A patient with Pentasomy X presented with multiple dislocations.
    • Elbow dislocations have been previously documented in Pentasomy X.
    • This patient exhibited hypoplasia of the glenoid process, leading to shoulder dislocation.

    Findings:

    • The patient's shoulder dislocation was attributed to glenoid hypoplasia, a novel finding in Pentasomy X.
    • Review of existing literature confirms elbow dislocations in Pentasomy X.

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  • This case expands the known skeletal manifestations of Pentasomy X.

    • Implications:

    • This finding broadens the understanding of skeletal abnormalities in Pentasomy X.
    • It suggests that orthopedic evaluation for shoulder instability may be warranted in Pentasomy X patients.
    • Further research into the genetic and developmental basis of skeletal anomalies in chromosomal disorders is needed.