Cerebrofaciothoracic syndrome

Maria Leine Guion-Almeida, Antonio Richieri-Costa, Dolores Saavedra, M. Michael Cohen

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)152-153
Number of pages2
JournalAmerican Journal of Medical Genetics
Volume61
Issue number2
DOIs
Publication statusPublished - Jan 11 1996

ASJC Scopus Subject Areas

  • Genetics(clinical)

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