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 language | English |
|---|---|
| Pages (from-to) | 619-623 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics |
| Volume | 44 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - 1992 |
| Externally published | Yes |
Keywords
- corpus callosum dysgenesis
- X-linked inheritance
ASJC Scopus subject areas
- Genetics(clinical)
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Kang, W. M., Huang, C. C., & Lin, S. J. (1992). X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family. American Journal of Medical Genetics, 44(5), 619-623. https://doi.org/10.1002/ajmg.1320440518