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선천성 근긴장성 이영양증 1례

Other Titles
 A Case of Congenital Myotonic Dystrophy 
Authors
 이택진  ;  김경식  ;  남궁란  ;  박국인  ;  이철  ;  이영목  ;  이진성  ;  김태승 
Citation
 Journal of the Korean Society of Neonatology (대한신생아학회지), Vol.9(2) : 204-210, 2002 
Journal Title
 Journal of the Korean Society of Neonatology (대한신생아학회지) 
ISSN
 2287-9412 
Issue Date
2002
Keywords
Congenital myotonic dystrophy ; Hypotonia ; Respiratory insufficiency ; Newborn
Abstract
Congenital myotonic dystrophy is an almost always maternally-inherited autosomal dominant multisystem disorder of variable clinical expressions characterized by hypotonia and frequent respiratory distress at birth. The muscle weakness may be so severe, it may lead to death in the newborn period. We report a case of congenital myotonic dystrophy in a 34 weeks of gestational age premature infant born to a mother with polyhydramnios, presenting with hypotonia, respiratory insufficiency, feeding difficulties and arthrogryposis. A brief review of literature is given.
Files in This Item:
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Kim, Tai Seung(김태승)
Namgung, Ran(남궁란) ORCID logo https://orcid.org/0000-0001-7182-9535
Park, Kook In(박국인) ORCID logo https://orcid.org/0000-0001-8499-9293
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
Lee, Jin-Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
Lee, Chul(이철)
Lee, Taek Jin(이택진)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/144787
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