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CHARGE联合征一例 被引量:2

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摘要 患儿女,生后3h,因"生后呼吸困难2h"入院。系第2胎第2产,胎龄39周自然分娩,羊水、胎盘、脐带未见异常,生后约1h患儿出现呼吸困难、颜面紫绀、哭声不畅,经吸痰、低流量吸氧患儿面色转红、呼吸困难缓解转入我科。父母均25岁,壮族,体健,
出处 《中国新生儿科杂志》 CAS 2011年第6期420-420,共1页 Chinese Journal of Neonatology
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  • 1STROMME P, BJORNSTAD P G, RAMSTAD K. Prevalence estimation of Williams syndrome[J]. J Child Neurol, 2002, 17:269-271.
  • 2MCELHINNEY D B, DRISCOLL D A, EMANUEL B S, et al. Chromosome 22q11 deletion in patients with truncus arteriosus [J]. Pediatr Cardiol, 2003, 24: 569-573.
  • 3MAHLE W T, CRISALLI J, COLEMAN K, et al. Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect[J]. Ann Thorac Surg,2003, 76: 567-571.
  • 4KRANTZ I D, PICCOLI D A, SPINNER N B. Alagille syndrome[J]. J Med Genet, 1997, 34: 152-157.
  • 5MCELHINNEY D B, KRANTZ I D, BASON L, et al. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome[J]. Circulation, 2002, 106: 2567-2574.
  • 6GELB B D. Genetic basis of congenital heart disease[J]. Curr Opin Cardiol, 2004, 19:110-115.
  • 7TELLIER A L, CORMIER-DAIRE V, ABADIE V, et al. CHARGE syndrome: report of 47 cases and review[J]. Am J Med Genet, 1998, 76: 402-409.
  • 8BOSSERT T, WALTHER T, GUMMER T J, et al. Cardiac malformations associated with the Holt-Oram syndrome -report on a family and review of the literature[J]. Thorac Cardiovasc Surg, 2002, 50: 312-314.
  • 9HUANG T. Current advances in Holt-Oram syndrome[J]. Curr Opin Pediatr, 2002, 14: 691-695.
  • 10BURCH M, SHARLAND M, SHINEBOURNE E, et al. Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients[J].J Am Coll Cardiol, 1993, 22:1189-1192.

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