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Journal of the Korean Society of Neonatology 2002;9(2):211-214.
Published online November 1, 2002.
A Case of Jacobsen Syndrome.
Jae Ho Noh, Ihl Sung Park, Hye Kyung Lee, Young Chang Kim
Department of Pediatrics, College of Medicine, Soonchunhyang University, Chunan, Korea. SHWOGH2@lycos.co.kr
Jacobsen Syndrome 1례
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Jacobsen syndrome is a clinical disorder characterized by a deletion of the terminal band 11q23. The features of the syndrome include growth retardation, psychomotor retardation, trigonocephaly, downward slanting palpabral fissures, retrognathia, micrognathia, hammer toes, thrombocytopenia and cardiac abnormalities. The disorder was first observed by Jacobsen in 1973. We herein report a case of Jacobsen syndrome in male premature neonate born with trigonocephaly, facial dysmorphism, cardiac defects and thrombocytopenia. The chromosomal study revealed 46, XY, del(11)(q23). The thrombocytopenia improved spotaneously by 3 months of age. The infant underwent a palliative operation for Tetralogy of Fallot at 11 months of age. A brief review of literature is included.
Key Words: Jacobsen syndrome


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