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  • Title: X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family.
    Author: Kang WM, Huang CC, Lin SJ.
    Journal: Am J Med Genet; 1992 Nov 15; 44(5):619-23. PubMed ID: 1481821.
    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.
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