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Goldenhar综合征一例

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摘要 患者男6岁5个月。因“自出生即发现双眼外侧肿物”于2010年8月23日收入我科。患者出生后即被发现双眼颞侧球结膜肿物,以右眼较为明显,双侧肿物随着年龄的增长而逐渐增大,伴有右耳廓畸形,左耳前赘生物。既往无全身疾患,无明显智力障碍。患儿系第一胎,足月剖宫产,父母非近亲婚配,母亲曾在孕期1月和3月两次出现先兆流产症状,均入院接受保胎治疗。
出处 《中国实用眼科杂志》 CSCD 北大核心 2011年第3期296-296,共1页 Chinese Journal of Practical Ophthalmology
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  • 1Balestrazzi P, Baeteman MA, Mattei MG, et al. Franceschetti syndrome in a child with a de novo balanced translocation (5;13)( qll;pll) and significant decrease of hexosaminidase B. Hum Genet, 1983,64: 305-308.
  • 2Jabs EW, Li X, Coss CA, et al. Mapping the Treacher Collins syndrome locus to 5q31.3-q33.3. Genomics, 1991,11:193-192.
  • 3Dixon M J, Dixon J, Houseal T, et al. Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. Am J Hum Genet, 1993,52:907-914.
  • 4Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature Genet, 1996,12:130-136.
  • 5Gladwin A J, Dixon J, Loftus SK, et al. Treacher Collins syndrome may result from insertions, deletions, or splicing mutations, which introduce a termination codon into the gene. Hum Molcc Genet, 1996,5: 1533-1538.
  • 6Edwards SJ, Gladwin A J, Dixon MJ. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am J Hum Genet, 1997,60: 515-524.
  • 7Splendore A, Silva EO, Alonsl LG, et al. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat, 2000,16:315-322.
  • 8Splendore A, Passos Bueno MR, Jabs EW, et al. TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. Am J Med Genet, 2002,111: 324-327.
  • 9Marszalek B, Wojcicki P, Kobus K, et al. Clinical features, treatment and genetic background of Treacher Collins syndrome. J Appl. Genet,2002,43: 223-233.
  • 10Summitt RL. Familial Goldenhar syndrome. Birth Defects Orig Art Ser,1969,V: 106-109.

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