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Related Experiment Videos

Neurosonographic abnormalities in chromosomal disorders.

T E Herman1, M J Siegel

  • 1Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, Missouri.

Pediatric Radiology
|January 1, 1991
PubMed
Summary

Cranial ultrasound findings in infants with autosomal trisomies (excluding Down syndrome) revealed various abnormalities. These brain changes, while nonspecific, can help identify specific chromosomal conditions in infants.

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Area of Science:

  • Pediatric Neurology
  • Medical Imaging
  • Genetics

Background:

  • Autosomal trisomies are genetic disorders associated with significant developmental and physical abnormalities.
  • Cranial ultrasound is a valuable, non-invasive tool for evaluating the neonatal brain.

Purpose of the Study:

  • To investigate the spectrum of cranial sonographic findings in infants diagnosed with autosomal trisomies, excluding Down syndrome.
  • To determine if specific sonographic abnormalities can aid in the diagnosis of particular trisomies.

Main Methods:

  • Retrospective analysis of cranial sonograms from infants with confirmed autosomal trisomies (excluding Down syndrome).
  • Review of imaging findings including structural anomalies, vascular changes, and presence of hydrocephalus.

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Main Results:

  • A diverse range of cranial abnormalities were identified in the study cohort.
  • Common findings included structural malformations, alterations in cerebral vasculature, and hydrocephalus.

Conclusions:

  • Cranial sonography reveals a variety of brain abnormalities in infants with autosomal trisomies (excluding Down syndrome).
  • While often nonspecific, these sonographic findings can provide crucial clues toward specific chromosomal diagnoses when correlated with clinical presentation.