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The axial mesodermal dysplasia spectrum

L J Russell, D D Weaver, M J Bull

    Pediatrics
    |February 1, 1981
    PubMed
    Summary
    This summary is machine-generated.

    This study identifies overlapping features of Goldenhar syndrome and caudal regression syndrome in patients. A new term, "axial mesodermal dysplasia spectrum," is proposed for these complex cases.

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    Area of Science:

    • Medical Genetics
    • Developmental Biology
    • Clinical Dysmorphology

    Background:

    • Goldenhar syndrome and caudal regression syndrome are distinct congenital anomalies.
    • Both syndromes involve malformations affecting craniofacial and spinal structures.

    Observation:

    • A patient presented with features of both Goldenhar syndrome and caudal regression syndrome.
    • Literature review identified two additional cases with overlapping features.
    • Other reported cases show partial overlap, with Goldenhar-related anomalies and caudal malformations, or vice versa.

    Findings:

    • The co-occurrence of Goldenhar syndrome and caudal regression syndrome is rare but documented.
    • Shared underlying developmental pathways may explain the observed overlapping malformations.

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  • Cranial and caudal anomalies can manifest together, suggesting a broader spectrum.

    • Implications:

    • The term "axial mesodermal dysplasia spectrum" is proposed for patients with this overlap.
    • This designation highlights the need for comprehensive evaluation for associated anomalies.
    • Recognizing this spectrum aids in understanding and managing complex congenital conditions.