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Anencephaly and limb deficiencies.

J I Rodríguez1, J L Rodríguez-Peralto, M Muro

  • 1Department of Pathology, La Paz Hospital, Madrid, Spain.

American Journal of Medical Genetics
|September 1, 1992
PubMed
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Limb deficiencies (LDs) are rare in anencephalic infants, but this study found eight cases. These infants often presented with other congenital anomalies, suggesting early embryogenesis disturbances.

Area of Science:

  • Developmental Biology
  • Clinical Genetics
  • Pediatric Pathology

Background:

  • Limb deficiencies (LDs) are seldom documented in infants with anencephaly.
  • Previous literature reviews identified only five cases of LDs in anencephalic infants.
  • Anencephaly is a severe neural tube defect incompatible with life.

Purpose of the Study:

  • To investigate the occurrence and characteristics of limb deficiencies in anencephalic infants.
  • To identify associated congenital anomalies in anencephalic infants with LDs.
  • To explore the implications for early embryogenesis.

Main Methods:

  • Retrospective analysis of 141 necropsy records of anencephalic infants.
  • Comparison of clinical and demographic data with literature cases.

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  • Detailed examination of associated congenital anomalies.

    • Main Results:

    • Eight cases of LDs were identified in anencephalic infants (1 in 62,000 births).
    • Infants with LDs were predominantly male, with younger gestational age, lower birth weight, and higher incidence of polyhydramnios.
    • The association of anencephaly and LDs was 100 times more frequent than expected.
    • Common associated anomalies included cardiovascular, renal defects, oral clefts, diaphragmatic hernia, esophageal atresia, and imperforate anus.

    Conclusions:

    • The co-occurrence of anencephaly and LDs is significantly higher than chance, indicating a shared underlying developmental pathology.
    • These findings suggest a severe disturbance in early embryogenesis (blastogenesis), particularly affecting the embryonic midline.
    • Mandatory postmortem examination is recommended for anencephalic infants with LDs to fully characterize associated anomalies.