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Trisomy 8 syndrome.

C C Lai, R J Gorlin

    Clinical Orthopaedics and Related Research
    |July 1, 1975
    PubMed
    Summary
    This summary is machine-generated.

    Trisomy 8 syndrome, a chromosomal disorder, presents with distinctive physical features and developmental delays. Early cytogenetic studies are crucial for diagnosing this condition, especially in children with multiple anomalies.

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    Area of Science:

    • Genetics
    • Clinical Medicine
    • Developmental Biology

    Background:

    • Trisomy 8 syndrome, also known as Warkany syndrome, is a rare chromosomal abnormality.
    • It can occur with or without mosaicism, meaning the extra chromosome 8 is present in all cells or only some cells.

    Observation:

    • Key clinical features include mental retardation, skull deformities, prominent forehead, high-arched palate, low-set or dysplastic ears, a long trunk, reduced joint mobility, and deep plantar furrows.
    • The deep plantar crease may be a pathognomonic sign, though it's observed in other rare syndromes.
    • Individuals may present with no physical abnormalities and be identified during evaluations for recurrent abortions.

    Findings:

    • The syndrome is characterized by a specific set of physical and developmental anomalies.

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  • Deep plantar furrows are a notable, potentially diagnostic, clinical sign.
  • Cytogenetic analysis is recommended for children with mental retardation and multiple anomalies to identify trisomy 8.

    • Implications:

    • Accurate diagnosis through cytogenetic studies is essential for appropriate management and genetic counseling.
    • Differential diagnosis should consider conditions like Fong's syndrome, arthrogryposis, and otopalato-digital syndrome.
    • Understanding trisomy 8 mosaicism aids in diagnosing complex cases, including those presenting atypically or with reproductive issues.