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External clues to inner malformations

D Gupta1, K Vaiphei, C K Banerjee

  • 1Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Indian Journal of Pathology & Microbiology
|December 29, 1998
PubMed
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Neonatal autopsies reveal that external malformations, particularly facial ones, often indicate internal abnormalities like cardiac and renal defects. However, many internal anomalies occur without any external signs.

Area of Science:

  • Developmental Biology
  • Pathology
  • Neonatal Medicine

Background:

  • Malformations are morphological defects arising from abnormal developmental processes.
  • Understanding external cues for internal malformations is crucial for early diagnosis.

Purpose of the Study:

  • To analyze neonatal autopsy data to identify correlations between external and internal malformations.
  • To determine the diagnostic value of external anomalies in predicting internal congenital defects.

Main Methods:

  • Retrospective analysis of 1421 neonatal autopsies conducted between 1984 and 1993.
  • Categorization and statistical analysis of observed external and internal malformations.

Main Results:

  • 17.1% of neonates exhibited malformations.

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  • Facial abnormalities were present in 27 neonates, with 85% having associated internal defects (cardiac, renal, gastrointestinal, diaphragmatic hernia).
  • Neural abnormalities were found in 67 neonates, often linked to cardiac, renal, or gastrointestinal issues, though 43 had no associated malformations.
  • Renal malformations showed a high association with skeletal abnormalities (22%).
  • Cardiac abnormalities frequently occurred without external signs (76%).
  • Hypoplastic lungs were observed in 5 cases, all with external malformations.

    • Conclusions:

    • External malformations, especially facial ones, are significant indicators of underlying internal congenital anomalies.
    • The absence of external anomalies does not rule out the presence of serious internal malformations, particularly cardiac defects.
    • Further investigation is warranted to improve the detection of internal malformations using external physical examination findings.