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KMID : 1039920170240010049
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Neonatal Medicine
2017 Volume.24 No. 1 p.49 ~ p.52
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A Case of Smith?Magenis Syndrome with Multiple Organ Malformations
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Kim Sung-Eun
Kim Geon-Ju
Suh Jin-Soon
Lee Ju-Young
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Abstract
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Smith-Magenis syndrome (SMS) is a genetic disease caused by microdeletion of p11.2 in chromosome 17. SMS patients have characteristic facial features and accompanying congenital malformations involving the brain, cardiovascular system, and urinary tract. Compared with the distinctive facial characteristics, organ malformations are less common. Several cases of SMS with tetralogy of Fallot have been reported in Korea, none of which were accompanied by other organ malformations. We present the first case report in Korea of an SMS patient with malformations of the brain, heart, and urinary tract.
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KEYWORD
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Smith-Magenis syndrome, Tetralogy of Fallot, Cisterna magna, Renal agenesis
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