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Iniencephaly with cyclopis (a case report).

S Ramakrishnan1, D C Sharma, V Ramakrishnan

  • 1Department of Paediatrics, R.N.T. Medical College, Udaipur, Rajasthan.

Journal of Postgraduate Medicine
|January 1, 1991
PubMed
Summary
This summary is machine-generated.

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This study reports an extremely rare case of iniencephaly, a neural tube defect, associated with cyclopia. This rare combination is likely only the third documented instance in medical literature.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Neurology

Background:

  • Iniencephaly is a rare congenital disorder characterized by a severe defect in the posterior neural tube.
  • Neural tube defects (NTDs) represent a significant group of congenital anomalies with complex etiologies.
  • Cyclopia, a severe congenital anomaly, involves the incomplete separation of the orbits.

Purpose of the Study:

  • To document and discuss a rare co-occurrence of iniencephaly and cyclopia.
  • To contribute to the limited literature on this specific combination of congenital anomalies.
  • To highlight the challenges in diagnosing and managing such complex cases.

Main Methods:

  • Case report detailing a patient with iniencephaly and cyclopia.
  • Review of relevant medical literature for similar reported cases.

Related Experiment Videos

  • Analysis of clinical and imaging findings.

    • Main Results:

    • The study presents a case of iniencephaly associated with cyclopia.
    • This association represents a rare finding, with only a few similar cases previously reported.
    • The findings underscore the spectrum of severe congenital malformations.

    Conclusions:

    • The co-occurrence of iniencephaly and cyclopia is exceptionally rare.
    • Such cases present significant diagnostic and prognostic challenges.
    • Further research into the genetic and developmental pathways may elucidate the mechanisms behind these combined defects.