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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