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[Diaphragmatic defect in trisomy 13].

W D Reinbold, E Back, H Reinwein

    Rontgen-Blatter; Zeitschrift Fur Rontgen-Technik Und Medizinisch-Wissenschaftliche Photographie
    |May 1, 1986
    PubMed
    Summary
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    This report details a rare case of congenital diaphragmatic defect in a newborn diagnosed with trisomy 13. The infant, who had a diaphragmatic defect and other trisomy 13 malformations, unfortunately, passed away shortly after birth.

    Area of Science:

    • Medical Genetics
    • Developmental Biology
    • Pediatric Surgery

    Context:

    • Congenital diaphragmatic defect (CDD) is a severe birth defect.
    • CDD frequently co-occurs with other congenital anomalies.
    • Trisomy 13 (Patau syndrome) is a genetic disorder associated with multiple severe malformations.

    Purpose:

    • To report an extremely rare case of a newborn presenting with both congenital diaphragmatic defect and trisomy 13.
    • To document the specific malformations observed in this unique case.
    • To highlight the genetic basis, specifically a 13/14 translocation, in this trisomy 13 presentation.

    Summary:

    • A newborn with trisomy 13, confirmed by karyotype revealing a 13/14 translocation, exhibited a rare congenital diaphragmatic defect.

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  • The diaphragmatic defect was located in the left retrosternal position.
  • The infant succumbed to the combined severe malformations within 48 hours of birth, necessitating a postmortem examination.

    • Impact:

    • This case underscores the critical association between genetic abnormalities like trisomy 13 and complex congenital malformations.
    • It emphasizes the poor prognosis for infants with combined CDD and trisomy 13.
    • Provides valuable data for understanding the spectrum of developmental abnormalities in chromosomal disorders.