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 |
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Keywords
- corpus callosum dysgenesis
- X-linked inheritance
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family. / Kang, W. M.; Huang, C. C.; Lin, S. J.
In: American Journal of Medical Genetics, Vol. 44, No. 5, 1992, p. 619-623.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family
AU - Kang, W. M.
AU - Huang, C. C.
AU - Lin, S. J.
PY - 1992
Y1 - 1992
N2 - 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.
AB - 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.
KW - corpus callosum dysgenesis
KW - X-linked inheritance
UR - http://www.scopus.com/inward/record.url?scp=0026450988&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0026450988&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320440518
DO - 10.1002/ajmg.1320440518
M3 - Article
VL - 44
SP - 619
EP - 623
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 0148-7299
IS - 5
ER -