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The Antley-Bixler syndrome

L K Robinson, N G Powers, P Dunklee

    The Journal of Pediatrics
    |August 1, 1982
    PubMed
    Summary

    Antley-Bixler syndrome is a rare genetic disorder characterized by specific skeletal abnormalities. This study reports on five patients, detailing common features like craniosynostosis and shortened cranial base.

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    Area of Science:

    • Medical Genetics
    • Pediatric Orthopedics
    • Developmental Biology

    Background:

    • Antley-Bixler syndrome (ABS) is a rare, autosomal recessive disorder.
    • Characterized by craniosynostosis, midface hypoplasia, and radiohumeral synostosis.
    • Previous reports have described limited cases, necessitating further characterization.

    Observation:

    • Three new unrelated patients (two female, one male) with ABS were evaluated.
    • This brings the total reported cases to five.
    • Clinical evaluation revealed consistent features across all patients.

    Findings:

    • Consistent findings include brachycephaly, midface hypoplasia, dysplastic ears, radiohumeral synostosis, and joint contractures.
    • Radiographic evidence of craniosynostosis was present in four of five patients.
    • A severely shortened cranial base was observed in all five patients, alongside variable femoral bowing and neonatal fractures.

    Implications:

    • These findings expand the understanding of Antley-Bixler syndrome's phenotypic spectrum.
    • Highlights the importance of early diagnosis and genetic counseling for affected families.
    • Further research into the molecular mechanisms underlying ABS is warranted.

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