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新生儿Prader—Willi综合征一例 被引量：2

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摘要 患儿男，生后6d，因“生后反应差伴肌张力低下6d”入院。患儿为第1胎第1产，胎龄35周，因胎膜早破15h经阴道侧切娩出，出生体重2．5kg。Apgar评分不详。生后因“反应差、哭声弱，
作者 闫果林 何玺玉
机构地区 北京军区总医院附属八一儿童医院新生儿重症监护病房 北京军区总医院附属八一儿童医院临床遗传中心
出处 《中华儿科杂志》 CAS CSCD 北大核心 2014年第1期57-58,共2页 Chinese Journal of Pediatrics
关键词 综合征 新生儿 APGAR评分 肌张力低下 阴道侧切 胎膜早破 出生体重 生后
分类号 R722.1 [医药卫生—儿科]
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参考文献11

  • 1Prader A. Adrenogenital syndrome,adrenogential salt deficiency syndrome and Cushing's syndrome in childhood[J].{H}Schweizerische Medizinische Wochenschrift,1956.289-299.
  • 2Wigren M,Hansen S. Prader-Willi syndrome:clinical picture,psychosocial support and current management[J].{H}Child:Care Health & Development,2003.449-456.
  • 3Whittington JE,Holland AJ,Webb T. Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region[J].{H}Journal of Medical Genetics,2001.792-798.
  • 4Holm VA,Cassidy SB,Butler MG. Prader-Willi syndrome:consensus diagnostic criteria[J].{H}PEDIATRICS,1993.398-402.
  • 5Gunay-Aygun M,Schwartz S,Heeger S. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria[J].{H}PEDIATRICS,2001.E92.
  • 6Goldstone AP. Prader-Willi syndrome:advances in genetics,pathophysiology and treatment[J].{H}Trends in Endocrinology & Metabolism,2004.12-20.
  • 7Ishikawa T,Kibe T,Wada Y. Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization:two sibs with the typical phenotype without a cytogenetic deletion in choromesome 15q[J].{H}AMERICAN Journal OF MEDICAL GENETICS,1996.350-352.
  • 8Dittrich B,Robinson WP,Knoblauch H. Molecular diagnosis of the Prader-Willi and Angehnan syndrome by detection of parent-of-origin specific DNA methylation in 15ql 1-13[J].{H}Human Genetics,1992.313-315.
  • 9Crino A,Schiaffini R,Ciampalini P. Hopogonadism and pubertal development in Prader-Willi syndrome[J].{H}European Journal of Pediatrics,2003.327-333.
  • 10Glenn CC,Deng G,Michaelis RC. DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting[J].{H}Prenatal Diagnosis,2000.300-306.

二级参考文献23

  • 1Gunay-Aygun M,Schwartz S,Heeger S,et al.The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.Pediatrics,2001,108:E92.
  • 2Nicholls RD,Saitoh S,Horsthemke B.Imprinting in Prader-Willi and Angelman syndrome.Trends Genet,1998,14:194-200.
  • 3Whittington JE,Holland A J,Webb T,et al.Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region.J Med Genet,2001,38:792-798.
  • 4Soejima H,Wagstaff J.Imprinting centers,chromatin structure,and disease.J Cell Biochem,2005,95:226-233.
  • 5Linda Keder,Merlin G.Butler,The genetics of Prader-Willi syndrome:an explanation for the rest of US,March-May 2000.Revised and updated in July 2004.Available from:http://www.pwsausa.org/syndrome/Genetics of PWS.htm
  • 6Holm VA,Cassidy SB,Butler MG,et al.Prader-Willi syndrome:consensus diagnostic criteria.Pediatrics,1993,91:398-402.
  • 7Kosaki K,McGinniss MJ,Veraksa AN,et al.Prader-Willi and Angelman syndrome:diagnosis with a bisulfite-treated methylationspecific PCR method.Am J Med Genet,1997,73:308-313.
  • 8Glenn CC,Deng G,Michaelis RC,et al.DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting.Prenat Diagn,2000,20:300-306.
  • 9Eiholzer U,Whitman BY.A comprehensive team approach to the management of patients with Prader-Willi syndrome.J Pediatr Endocrinol Metab,2004,17:1153-1175.
  • 10Carrel AL,Myers SE,Whitman BY,et al.Growth hormone improves body composition,fat utilization,physical strength and agility,and growth in Prader-Willi syndrome:a controlled study.J Pediatr,1999,134:215-221.

共引文献15

同被引文献21

引证文献2

二级引证文献5

中华儿科杂志
2014年 第1期

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