【目的】 通过文献复习Dandy-Walker 综合征,提高临床对本病的认识和诊疗。 【方法】 结合临床病例报道,复习Dandy-Walker 综合征文献并总结。 【结果】 Dandy-Walker 综合征的发生与遗传和环境因素有关,可伴其他畸形或综合征,影像学检查是主要的诊断依据。 【结论】 Dandy-Walker 综合征是一种先天性神经系统发育畸形,预后不良,早发现,早诊断,尤其是产前诊断具有重要意义。
Abstract
【Objective】 To review the literature of Dandy-Walker syndrome(DWS) and improv the level to understand and diagnose this disease in clinic. 【Method】 In this article,a 7-month old patient with DWS was presented,and the literature and its summarized character was reviewed. 【Result】 Genetic and environmental factors might be devoted to DWS which could be associated with cerebral or systemic anomalies,imaging study such as CT or MRI was the main basis for its diagnosis. 【Conclusion】 DWS is a congenital malformation in the central nervous system,with poor prognosis,early detection and diagnosis,especially prenatal diagnosis is very important.
关键词
畸形 /
Dandy-Walker 综合征 /
文献复习
Key words
malformation /
Dandy-Walker syndrome /
literature review
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参考文献
[1] Barkovich AJ.Developmental disorders of the midbrain and hindbrain [J].Front Neuroanat,2012,3(6):1-10.
[2] Cazorla Calleja MR,Verdu A,Felix V.Dandy-Walker malformation in an infant with tetrasomy 9p[J].Brain Dev,2003,25(3):220-223.
[3] Hengstsehlager M,Bettelheim D,Drahonsky R,et al.Prenatal diagnosis of tetrasomy 9p with Dandy-Walker malformation[J].Prenat Diagn,2004,24(8):623-626.
[4] Deurloo KL,Cobben JM,Heins YM,et al.Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation:a case report.[J].Prenat Diagn,2004,24(10):796-798.
[5] Grinberg I,Northrup H,Ardinger H,et al.Heterozygous deletion of the linked genes ZIC1 and ZlC4 is involved in Dandy-Walker malformation[J].Nature Genet,2004,36(10):1053-1055.
[6] Ballarati L,Rossi E,Bonati MT,et al.13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients[J].J Med Genet,2007,44(1):1-6.
[7] Aldinger KA,Lehmann OJ,Hudgins L,et al.FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation[J].Nat Genet,2009,41(9):1037-1042.
[8] Jalali A,Aldinger KA,Chary A,et al.Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity[J].Hum Genet,2008,123(3):237-245.
[9] Stevens CA,Lachman RS.New lethal skeletal dysplasia with Dandy-Walker malformation,congenital heart defects,abnormal thumbs,hypoplastic genitalia,and distinctive facies[J].Am J Med Genet A,2010,152A(8):1915-1918.
[10] Stoodley P,Braxton EE Jr,Nistico L,et al.Direct Demonstration of Staphylococcus biofilm in an external ventricular drain in a patient with a history of recurrent ventriculoperitoneal shunt failure[J].Pediatr Neurosurg,2010,46(2):127-132.
[11] Patek KJ,Kline-Fath BM,Hopkin RJ,et al.Posterior fossa anomalies diagnosed with fetal MRI: associated anomalies and neurodevelopmental outcomes[J].Prenat Diagn,2012;32(1):75-82.
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