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Fetal brain disruption sequence.

C A Moore1, D D Weaver, M J Bull

  • 1Department of Medical Genetics, Indiana University School of Medicine, Indianapolis 46202.

The Journal of Pediatrics
|March 1, 1990
PubMed
Summary
This summary is machine-generated.

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The fetal brain disruption sequence causes severe microcephaly and skull abnormalities. While prognosis is poor for affected infants, recurrence risk in future pregnancies is low.

Area of Science:

  • Neurology
  • Developmental Biology
  • Pediatrics

Background:

  • The fetal brain disruption sequence is a distinct pattern of congenital anomalies.
  • It involves microcephaly, overlapping sutures, occipital bone prominence, and scalp rugae.
  • This condition is theorized to result from partial brain disruption in the second or third trimester, leading to skull collapse due to reduced intracranial pressure.

Purpose of the Study:

  • To describe the clinical characteristics and outcomes of infants with the fetal brain disruption sequence.
  • To highlight the importance of recognizing this phenotype for accurate prognosis and family counseling.

Main Methods:

  • Case series reporting on seven infants diagnosed with the fetal brain disruption sequence.
  • Clinical observation and phenotypic assessment over time.

Related Experiment Videos

Main Results:

  • Seven infants with the fetal brain disruption sequence were identified.
  • Two infants died during the study period.
  • Three infants exhibited a changing phenotype over time.

Conclusions:

  • The fetal brain disruption sequence has a uniformly poor prognosis for affected infants.
  • Despite the poor prognosis, the recurrence risk for future pregnancies is low.
  • Early recognition of this phenotype is crucial for clinical management and genetic counseling.