- Case Report
- A Case of Wolf-Hirschhorn Syndrome with Long Term Survival Diagnosed by Fluorescent In-situ Hybridization(FISH)
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Eun Sil Dong, Mee Jeong Kim, Young Min Ahn, Myoung Sook Koo, Hwan Keuk Yong, Anna Lee
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Clin Exp Pediatr. 2000;43(3):438-443. Published online March 15, 2000
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Wolf-Hirschhorn syndrome is a multiple malformation syndrome associated with mental and developmental retardation, resulting from a deletion at the short arm of chromosome 4(4p16.3). We report a 11-year-old girl with Wolf-Hirschhorn syndrome, who was presented with severe growth and mental retardation along with characteristic features-frontal bossing, hypertelorism, downslanting of the palpebral fissures and fishlike lips. The diagnosis was confirmed by... |
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- A Case of Cyclic Neutropenia
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Yoon Hwa Cha, Hye Sun Lee, Young Min Ahn, Myoung Sook Koo
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Clin Exp Pediatr. 1993;36(7):1009-1015. Published online July 15, 1993
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Cyclic Neutropenia is a benign, unusual hematologic disorder characterized by regularly recurring episodes of severe neutropenia occurring approximately every 21 days. Beside neutrophils, monocytes, lymphocytes, platelets and reticulocytes all cycle with strict periodicity suggest that this disease should be viewed as cyclic hematopoiesis, not merely as cyclic neutropenia.
During neutropenic periods, patients regularly experience aphthous stomatitis, fever, malaise, cervical lymphadenitis, cutaneous... |
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- Original Article
- Three cases of type I von Willebrand disease in a family.
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Jie Sun Yoon, Hey Sun Lee, Young Min Ahn, Myoung Sook Koo, Sun Yang Park
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Clin Exp Pediatr. 1991;34(3):419-425. Published online March 31, 1991
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von Willebrand disease is a bleeding disorder characterized by a complex hemostatic defect. These
abnormalities arise from quantitative and/or qualitative abnormalities of von Willebrand factor
which circulates in plasma complexed with the factor VID procoagulant protein.
We have experienced three cases of type I von Willebrand disease in two children and their
mother. They had prolonged bleeding time and partial thromboplastin time, mildly decreased... |
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