X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family

W. M. Kang, C. C. Huang, S. J. Lin

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

This report describes a new syndrome of dysgenesis of corpus callosum with other anomalies, presenting as microcephaly, mental retardation, spasticity, and unusual facial appearance in 2 Chinese brothers and their maternal cousins. To date, there has not been any case reported in the Chinese population of this syndrome. All 4 patients in this report present with the same unusual face. Hydrocephalus and/or interhemispheric cyst were found among them. This syndrome is transmitted as an X-linked trait. The nosology is reviewed and discussed.

Original languageEnglish
Pages (from-to)619-623
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume44
Issue number5
DOIs
Publication statusPublished - 1992
Externally publishedYes

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Keywords

  • corpus callosum dysgenesis
  • X-linked inheritance

ASJC Scopus subject areas

  • Genetics(clinical)

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