- Case Report
- Five Cases of Prader-Willi or Angelman Syndrome Diagnosed by FISH in Neonate and Infancy
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Hee Jung Chung, Young Rae Kim, Man Yong Han, Sook Hwan Lee
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Clin Exp Pediatr. 2000;43(3):417-422. Published online March 15, 2000
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The Prader-Willi syndrome(PWS) and Angelman syndrome(AS) are clinically distinct syndromes with a shared cytogenetic deletion of chromosome 15q11q13 in most patients. Currently the diagnosis of PWS/AS is clinically suspected and can be confirmed by genetic laboratory tests. However, their diagnosis remains difficult in neonates and early infants because many features of the syndromes change with age and the typical features... |
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- Original Article
- Periventricular Leukomalacia: Electroencephalographic Features and Neurodevelopmental Outcome
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Hee Jung Chung, Young Rae Kim, Mun Chul Kim
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Clin Exp Pediatr. 1996;39(4):530-542. Published online April 15, 1996
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Purpose : Periventricular leukomalacia(PVL) is associated with the characteristic neurologic sequale of spastic diplegia or quadriplegia, and cortical blindness. So early diagnosis of PVL in the neonatal period is of importance because of the prognostic implications of this lesion. Novotny et al reported that Positive Rolandic Sharp waves(PRS) on the EEGs was a marker of PVL because most infants who... |
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- Case Report
- A Case of Antley-Bixler Syndrome
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Young Rae Kim, Kook In Park, Choon Sik Yoon, Ran Namgung, Chul Lee, Dong Gwan Han
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Clin Exp Pediatr. 1995;38(4):582-585. Published online April 15, 1995
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Antley-Bixler syndrome is a very rare disese of characteristic feature of craniosynostosis, brachycephaly, midface hypoplasia, depressed nasal bridge, radiohumeral synostosis and bowing femur.
We presented a case of Antley-Bixtler syndrome with brief review of lituratures. |
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