J Korean Pediatr Soc.
1981 Jun;24(6):589-591.
A Case of 18p- Syndrome
- Affiliations
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- 1Department of Pediatrics, School of Medicine Kyung Hee University, Seoul, Korea.
- 2Department of Obstetrics and Gynecology, School of Medicine Kyung Hee University, Seoul, Korea.
Abstract
- We have experienced a case of 18p- syndrome in 22 month old girl who had craniofacial anomaly such as microcephaly, hypertelorism, nystagmus, depressed nasal bridge, complete bilateral cleft palate, both ear canal stenosis and mental retardation. Chromosome culture revealed short arm deletion of chromosome 18 in E group. As far as we know, this case is the first report of 18p- syndrome in Korea and brief review of related literature was made.
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