成骨不全症与先天性膈疝。
Osteogenesis imperfecta and congenital diaphragmatic hernia.
作者信息
Dholakia Shamik, Cleeve Stuart
机构信息
Department of Paediatric Surgery, John Radcliffe Hospital, Oxford, UK.
出版信息
BMJ Case Rep. 2013 Jan 22;2013:bcr2012007341. doi: 10.1136/bcr-2012-007341.
Abstract
Osteogenesis imperfecta and congenital diaphragmatic hernia are both conditions that can occur due to genetic mutation. We present the first case to be reported of a child with both osteogenesis imperfecta and congenital diaphragmatic hernias, showing that the incidence of this presentation may be more than chance.
摘要
成骨不全症和先天性膈疝都是可能由基因突变引起的病症。我们报告了首例同时患有成骨不全症和先天性膈疝的儿童病例，表明这种情况的发生率可能并非偶然。
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Osteogenesis imperfecta and congenital diaphragmatic hernia.成骨不全症与先天性膈疝。
BMJ Case Rep. 2013 Jan 22;2013:bcr2012007341. doi: 10.1136/bcr-2012-007341.
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本文引用的文献
1
Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2.Smith-Magenis 综合征中的先天性膈疝：可能位于 17p11.2 号染色体上。
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Osteogenesis Imperfecta: update on presentation and management.成骨不全症：临床表现与治疗进展
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Congenital diaphragmatic hernia and retinoids: searching for an etiology.先天性膈疝与类视黄醇：探寻病因
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Surgical treatment of osteogenesis imperfecta: current concepts.成骨不全症的外科治疗：当前概念
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Treatment of osteogenesis imperfecta: who, why, what?成骨不全症的治疗：何人、为何、如何？
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Osteogenesis imperfecta:epidemiology and pathophysiology.成骨不全症：流行病学与病理生理学
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Recurrent congenital diaphragmatic hernia in Ehlers-Danlos syndrome.埃勒斯-当洛综合征中的复发性先天性膈疝
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Strangulated diaphragmatic hernia in a patient with osteogenesis imperfecta.一名成骨不全患者发生绞窄性膈疝。
Can Med Assoc J. 1984 Dec 1;131(11):1369-70.
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