Cerebrofaciothoracic syndrome

Am J Med Genet. 1996 Jan 11;61(2):152-3. doi: 10.1002/(SICI)1096-8628(19960111)61:2<152::AID-AJMG9>3.0.CO;2-Z.

Abstract

We report on a patient with a large septum pellucidum, hypodensity of gray matter, hypertelorism, and costovertebral anomalies. Only 5 previous cases have been described with this distinctive phenotype. Autosomal recessive inheritance seems likely.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Brain / abnormalities*
  • Humans
  • Hypertelorism / diagnosis
  • Infant, Newborn
  • Male
  • Phenotype
  • Syndrome
  • Thoracic Vertebrae / abnormalities*