Childhood Kidney Diseases
- 제8권1호
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- Pages.57-62
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- 2004
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- 2384-0242(pISSN)
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- 2384-0250(eISSN)
Schinzel-Giedion 증후군 1례
A Case of Schinzel-Giedion Syndrome
- 정민지 (고려대학교 의과대학 소아과학교실) ;
- 임형은 (고려대학교 의과대학 소아과학교실) ;
- 홍영숙 (고려대학교 의과대학 소아과학교실) ;
- 이주원 (고려대학교 의과대학 소아과학교실) ;
- 김순겸 (고려대학교 의과대학 소아과학교실) ;
-
유기환
(고려대학교 의과대학 소아과학교실)
- Jeoung Min-Jee (Deportment of Pediatrics, College of Medicine, Korea University) ;
- Yim Hyung-Eun (Deportment of Pediatrics, College of Medicine, Korea University) ;
- Hong Young-Sook (Deportment of Pediatrics, College of Medicine, Korea University) ;
- Lee Joo-Won (Deportment of Pediatrics, College of Medicine, Korea University) ;
- Kim Soon-Kyum (Deportment of Pediatrics, College of Medicine, Korea University) ;
-
Yoo Kee-Hwan
(Deportment of Pediatrics, College of Medicine, Korea University)
- 발행 : 2004.04.01
초록
Schinzel-Giedion 증후군은 상염색체 열성 유전을 하는 것으로 추정되는 매우 드문 질환으로서 선천성 수신증, 골격계 이형성, 심한 발달 지연 등이 특징인 이형 증후군이다. 저자들은 유전질환의 병력이 없는 건강한 부모에서 태어난 후 진단된 Schinzel-Giedion 증후군으로서 신 수질의 석회화와 K. pneumoniae에 의한 요로감염이 추가로 발생한 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.
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.