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Related Experiment Videos

Cerebrofaciothoracic syndrome

M L Guion-Almeida1, A Richieri-Costa, D Saavedra

  • 1Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Brazil.

American Journal of Medical Genetics
|January 11, 1996
PubMed
Summary
This summary is machine-generated.

This study details a rare patient with specific brain and skeletal abnormalities, including large septum pellucidum and costovertebral anomalies. Autosomal recessive inheritance is suspected for this distinctive neurological and physical phenotype.

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • The septum pellucidum is a thin membrane within the brain.
  • Gray matter hypodensity can indicate neuronal loss or developmental issues.
  • Hypertelorism and costovertebral anomalies are congenital malformations.