Beckwith-Wiedemann综合征1例
摘要
患者患儿女性，70h，因“反应低下2d伴频繁抽搐4次”入院。该患儿系G2P2，35“，因胎位不正（臀位）在外院择期剖宫产，APGAR评分1min8分，5min10分．出生体重3800g。否认宫内窘迫．胎盘大于正常1／2倍，胎盘重1250g，脐带较正常粗1．7倍，羊水约2500ml。母孕期体健，否认糖尿病史，胎儿B超检查未见异常。入院前2d该患儿出现反应低下并伴有四肢阵发性抽搐4次。
出处
《浙江医学》
CAS
2007年第12期1338-1339,共2页
Zhejiang Medical Journal
参考文献5
-
1Hussain K, Cosqrove K, Shepherd R, et al. Hyperinsulinemic hypoglycemia inBeckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive[J]. J Clin Endocrinol Metab, 2005, 90(7): 4376- 4382.
-
2Goldman M, Shuman C, Weksberg R, et al. Hypercalciuria in Beckwith-Wiedemann syndrome[J]. Pediatr, 2003, 142(2): 206-208.
-
3梁红,王庆杰,陈净,郭静.Beckwith-Wiedemann综合征一例[J].中华儿科杂志,2005,43(12):945-946. 被引量：3
-
4Aynsley G A, Hussain K, Hall J, et al. Pratical management of hyperinsulinism in infancy[J]. Arch Dis Child Fetal Neonatal Ed, 2000, 82(2 ): 98-107.
-
5Bliek J, Gicquel C, Maas S, et al. Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS) [J]. Pediatrics, 2004, 145(6 ):796-799.
二级参考文献8
-
1Shittu OB,Gana JY,Alawale EO,et al.Beckwith-Wiedemann Syndrome (BWS):a case report and literature review.Afr J Med Sci,2003,22:101-102.
-
2Li M,Squire JA.Molecular genetic of Wiedemann-Beckwith syndrome .Am J Med Genet,1998,79:253-259.
-
3Polychronakos C,Kukuvitis A.Parental genomic imprinting in endocrinopathies.Eur J Endocrinol,2002,147:561-569.
-
4Gaston V,Le Bouc Y,Soupre V,et al.Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.Eur J Hum Genet,2001,9:409-418.
-
5Weksberg R,Smith AC,Squire J,et al.Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.Hum Mol Genet,2003,1:61-68.
-
6蒋允凯.新生儿Beckwith综合征病理一例报告[J].临床儿科杂志,1996,4:261-261.
-
7Thornburg CD,Shulkin BL,Castle VP.Thoracic neural crest tumors in Beckwith-Wiedemann syndrome.Med Pediatr Oncol,2003,41:468-469.
-
8Hamada H,Fujiki Y,Obata-Yasuoka M.Prenatal sonographic diagnosis of Beckwith-Wiedemann syndrome in association with a single umbilical artery.J Clin Ultrasound,2001,29:535-538.
-
1朱月梅,张英,陈晓丽.小儿高热惊厥的护理[J].医学信息,2011,24(4):803-803. 被引量：1
-
2李芬.新生儿毒鼠强中毒一例[J].中国新生儿科杂志,2010,25(1):48-48.
-
3陈勇,钟建民.新生儿破伤风误诊为癫痫一例[J].江西医学院学报,2003,23(5):108-108.
-
4杨作成.小儿惊厥的抢救措施（上）[J].中国社区医师,2013(35):26-27.
-
5高俊珊,张百佳,欧阳秋莲,马婉.新生儿缺血缺氧性脑病继发癫1例报告[J].现代电生理学杂志,2007,14(2):96-100.
-
6云国家,徐三男,云丽.染色体异常儿二例(47,XY,+22双着丝粒;47,XY,+21伴肛门闭锁各一例)[J].中国优生与遗传杂志,2003,11(6):45-45.
-
7王峻峰,郭彩琴,刘俊,唐叶,吴金保.产前诊断疑诊Beckwith—Wiedemann综合征一例[J].中华医学遗传学杂志,2014,31(3):411-411.
-
8陈国兵.以惊厥为首发症状的肾小管性酸中毒1例[J].实用儿科临床杂志,2002,17(3):168-168.
-
9赵菊英,武秀平.新生儿颅内出血误诊1例[J].牡丹江医学院学报,2005,26(6):58-59.
-
10周继红,韩永辉,王莲.小儿布氏杆菌病一例[J].中华传染病杂志,2001,19(6):351-351. 被引量：3
