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Related Experiment Videos

Cleidocranial dysplasia. A family study.

I Eventov, I Reider-Grosswasser, S Weiss

    Clinical Radiology
    |May 1, 1979
    PubMed
    Summary

    This study identifies an atypical variant of cleidocranial dysplasia (CCD) in a family, characterized by skull and pelvic abnormalities. Early and complete skeletal surveys are crucial for diagnosing this rare genetic disorder.

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    Area of Science:

    • Genetics
    • Orthopedics
    • Radiology

    Background:

    • Cleidocranial dysplasia (CCD) is a rare genetic disorder affecting bone development.
    • Typical features include clavicular hypoplasia/aplasia and dental anomalies.
    • Diagnosis can be challenging, especially in milder or atypical presentations.

    Purpose of the Study:

    • To investigate a family with suspected cleidocranial dysplasia based on initial observations.
    • To identify and characterize skeletal abnormalities associated with an atypical CCD variant.
    • To evaluate the diagnostic utility of specific radiological signs in CCD.

    Main Methods:

    • Clinical examination and radiological assessment of affected family members.
    • Detailed skeletal surveys focusing on skull, pelvis, and clavicles.
    • Analysis of radiological features and their progression with age.

    Main Results:

    • Eight out of ten family members diagnosed with cleidocranial dysplasia (CCD).
    • Abnormal modelling of the medial clavicle ends observed in all affected individuals.
    • A pelvic ossification defect suggested as a novel radiological sign for CCD.

    Conclusions:

    • The family exhibits an atypical variant of cleidocranial dysplasia (CCD).
    • Mild scoliosis may be associated with atypical CCD presentations.
    • Comprehensive skeletal surveys and family studies are vital for accurate CCD diagnosis.

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