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矫治Apert尖头并指(趾)综合征手足畸形二例

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摘要 Apert尖头并指(趾)综合征为一种少见的常染色体显性遗传病,临床表现为颅缝早闭、颅面部畸形、严重的对称性并指(趾)畸形^[1-2],由法国医生Apert于1906年首先报道而得名。
出处 《中华整形外科杂志》 CAS CSCD 北大核心 2013年第1期69-71,共3页 Chinese Journal of Plastic Surgery
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参考文献10

  • 1Ciasca SM, Araujo AP, Simiio AN, et a1. Neuropsychological and phonological evaluation in the Apert' s syndrome: study of two cases. Arq Neuropsiquiatr,2001 ,59 :342-346.
  • 2唐晓军,归来,张智勇.Apert综合征研究进展[J].中华整形外科杂志,2007,23(5):453-456. 被引量:5
  • 3Bochukova EG, Roscioli T, Hedges DJ, et a1. Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. Hum Mutat,2009,30:204-211.
  • 4Fenwick AL, Bowdin SC, Klatt RE, et a1. A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome. BMC Medical Genetics, 2011 ,12: 122-127.
  • 5Cohen MMJr , Kreiborg S, Lammer EJ, et a1. Birth prevalence study of the Apert syndrome. AmJ Med Genet, 1992,42: 655- 659.
  • 6Mukhopadhyay AK, Mukherjee D. Aperts syndrome. IndianJ Dermatol Venereol Leprol, 2004 ,70 : 105 -1 07.
  • 7成琦,周启星.Apert尖头并指综合征手指畸形的矫治[J].中华小儿外科杂志,2005,26(8):440-441. 被引量:2
  • 8Journeau P, Lajeunie E, Renier D. Syndactyly in Apert syndrome. Utility of a prognostic classification. Ann Chir Main Memb Super, 1999,18: 13-19.
  • 9Guero SJ. Algorithm for treatment of apert hand. Tech Hand Up Extrem Surg, 2005,9:126-133.
  • 10Harvey I, Brown S, Ayres 0, et a1. The Apert hand-angiographic planning of a single-stage, 5 -digit release for all classes of deformity.J Hand Surg Am ,2012 ,37: 152-158.

二级参考文献44

  • 1Linss G. Acrocephalosyndacty l (Apertsyndrome). Hautarzt, 2000,51:685-687.
  • 2洪庆成 江敬铭.儿科综合征[M].天津:天津科技出版社,1966.4-5.
  • 3Wilkie AO, Oldridge M, Tang Z. Craniosynostosis and Related Limb Anomalies. Novartis Found Symp, 2001,232 : 122-133, discussion 133- 143.
  • 4Apert ME. De l' acrocephalosyndactylie. Bull Mem Soc Med Hop Paris, 1906, 23: 1310-1330.
  • 5Cohen MM Jr, Kreiborg S, Lammer El, et al. Birth prevalence study of the Apert syndrome .Am J Med Genet, 1992, 42:655-659.
  • 6Roberts KB, Hall JG. Apert' s acrocephalosyndactyly in mother and daughter: cleft palate in the mother. Birth Defects Orig Artic Ser, 1971, 7:262-264.
  • 7Blank CE. Apert' s syndrome (a type of acrocephalosyndactyly ): observations on a British series of thirty-nine cases. Ann Hum Genet, 1960 ,24: 151-164.
  • 8Weech AA. Combined acrocephaly and syndactylism occurring in mother and daughter: a case report. Bull Johns Hopkins Hosp, 1927,40: 73- 76.
  • 9Park WJ, Theda C, Maestri NE. Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet, 1995, 57: 321-328.
  • 10Ibrahimi OA, Chiu ES, McCarthy JG. Understanding the molecular basis of Apert syndrome. Plast Reconstr Surg, 2005 , 115:264-270.

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