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Neural defects in Say-Gerald (VATER) syndrome.

S Aleksic, G Budzilovich, M A Greco

    Child'S Brain
    |January 1, 1984
    PubMed
    Summary
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    Say-Gerald (VATER) syndrome, a multifocal developmental disorder, can include central nervous system anomalies. Autopsied cases revealed hydrocephalus and spinal cord hypoplasia, underscoring the need for neurological exams in affected children.

    Area of Science:

    • Developmental Biology
    • Pediatric Neurology
    • Medical Genetics

    Background:

    • VATER syndrome is a complex congenital disorder characterized by vertebral defects, anal atresia, tracheoesophageal fistula, radial dysplasia, and renal defects.
    • The etiology of VATER syndrome is multifactorial, involving disruptions in early embryonic development.
    • Understanding the full spectrum of VATER syndrome is crucial for comprehensive patient management.

    Observation:

    • Autopsy findings in two VATER syndrome cases revealed significant central nervous system (CNS) anomalies.
    • One case presented with hydrocephalus, aqueductal stenosis, and probable craniosynostosis.
    • The second case exhibited spinal cord hypoplasia, including nerve roots and anterior/posterior horns, correlating with limb malformations.

    Findings:

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    • Central nervous system anomalies are a potential component of VATER syndrome.
    • The observed CNS defects suggest a broader developmental field defect than previously recognized.
    • These findings highlight the interconnectedness of organ system development in VATER syndrome.

    Implications:

    • Children diagnosed with VATER syndrome require thorough neurological examinations.
    • Early identification of CNS defects can lead to timely interventions for potentially treatable conditions.
    • This study expands the understanding of VATER syndrome, emphasizing the importance of a multidisciplinary approach to diagnosis and care.