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Journal of the Korean Society of Pediatric Nephrology 2004;8(1): 57-62.
Schinzel-Giedion 증후군 1례
정민지, 임형은, 홍영숙, 이주원, 김순겸, 유기환
1고려대학교 의과대학 소아과학교실
2고려대학교 의과대학 소아과학교실
3고려대학교 의과대학 소아과학교실
4고려대학교 의과대학 소아과학교실
5고려대학교 의과대학 소아과학교실
6고려대학교 의과대학 소아과학교실
A Case of Schinzel-Giedion Syndrome
Min-Jee Jeoung, Hyung-Eun Yim, Young-Sook Hong, Joo-Won Lee, Soon-Kyum Kim, Kee-Hwan Yoo
1Deportment of Pediatrics, College of Medicine, Korea University
2Deportment of Pediatrics, College of Medicine, Korea University
3Deportment of Pediatrics, College of Medicine, Korea University
4Deportment of Pediatrics, College of Medicine, Korea University
5Deportment of Pediatrics, College of Medicine, Korea University
6Deportment of Pediatrics, College of Medicine, Korea University
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ABSTRACT
Schinzel-Giedion syndrome is a rare, distinct dysmorphic syndrome characterized by congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation, likely to be inherited as an autosomal recessive trait, but not yet confirmed. This syndrome is characterized by coarse facial features such as midfacial retraction, bulging forehead, short nose with anteverted nostrils, low-set malformed ears, protruding large tongue, and hypertelorism. Skeletal and limb defects, choanal stenosis, simian creases, hypospadias, microphallus, hypertrichosis, and intractable seizures are the frequently associated clinical findings. Urogenital involvement is a major component of the syndrome, and this problem sometimes is associated with nephrocalcinosis and urinary tract infection in the clinical course of the disease. We report a 22 month-old girl with Schinzel-Giedion syndrome complicated by medullary nephrocalcinosis and urinary tract infection due to Klebsiella pneumoniae. This patient had also been suffering from postnatal growth deficiency, intractable seizure, spastic tetraplegia, delayed development and severe mental retardation.
Key words: Schinzel-Giedion syndrome | Urinary tract infection | Nephrocalcinosis | Klebsiella pneumoniae
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