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ASSOCIATED ANOMALIES IN CASES WITH LIMB REDUCTION DEFICIENCIES.

C Stoll, Y Alembik, B Dott

    Genetic Counseling (Geneva, Switzerland)
    |September 12, 2018
    PubMed
    Summary

    Over half of infants with limb reduction deficiencies (LRD) have associated anomalies, including chromosomal and dysmorphic conditions. Thorough investigation and potential routine screening for these congenital malformations are recommended.

    Area of Science:

    • Medical Genetics
    • Developmental Biology
    • Pediatric Health

    Background:

    • Infants with limb reduction deficiencies (LRD) frequently present with co-occurring congenital anomalies.
    • Understanding the prevalence and types of these associated anomalies is crucial for comprehensive infant care.

    Purpose of the Study:

    • To determine the prevalence and spectrum of associated anomalies in infants diagnosed with limb reduction deficiencies (LRD).
    • To identify common patterns and types of congenital malformations linked to LRD.

    Main Methods:

    • A 29-year population-based study of 387,067 births, identifying 317 infants with LRD.
    • Inclusion of livebirths, stillbirths, and terminations of pregnancy.
    • Geneticist examination of affected infants, ascertainment of elective terminations, and surveillance up to 2 years of age.

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    Main Results:

    • A prevalence of 8.2 per 10,000 births for LRD was observed.
    • 59.9% of infants with LRD had associated anomalies.
    • Chromosomal abnormalities (8.5%) and recognized dysmorphic conditions (23.0%), including VACTERL association and Poland syndrome, were identified. Multiple congenital anomalies (MCA) were present in 28.4% of cases. Common affected systems included musculoskeletal, cardiac, urogenital, and central nervous systems.

    Conclusions:

    • More than half of infants with LRD exhibit associated congenital anomalies, underscoring the need for comprehensive evaluations.
    • Routine screening for anomalies in the musculoskeletal, cardiovascular, urogenital, central nervous, and digestive systems should be considered for fetuses and infants with LRD.