[1]钟家斐,纪新婷,顾硕.综合征型脑积水的研究进展[J].临床小儿外科杂志,2021,20(03):285-291.[doi:10.12260/lcxewkzz.2021.03.016]
 Zhong Jiafei,Ji Xinting,Gu Shuo.Recent advances in diagnosis and treatment of syndromic hydrocephalus[J].Journal of Clinical Pediatric Surgery,2021,20(03):285-291.[doi:10.12260/lcxewkzz.2021.03.016]
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综合征型脑积水的研究进展

参考文献/References:

1 Santoro C.Genetics of Human Hydrocephalus[M].New York:Springer,Cham,2019,97-138.DOI:10.1007/978-3-319-27250-4_1.
2 Kousi M,Katsanis N.The genetic basis of hydrocephalus[J].Annu Rev Neurosci,2016,39:409-435.DOI:10.1146/annurev-neuro-070815-014023.
3 Zheng H,Yu WM,Waclaw RR,et al.Gain-of-function mutations in the gene encoding the tyrosine phosphatase SHP2 induce hydrocephalus in a catalytically dependent manner[J].Sci Signal,2018,11(522):eaao1591.DOI:10.1126/scisignal.aao1591.
4 Ejarque I,Millán-Salvador JM,Oltra S,et al.Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway[J].Rev Neurol,2015,60(9):408-412.DOI:10.1007/s00381-012-2000-9.
5 Roth J,Ber R,Constantini S.Neurofibromatosis type 1 related hydrocephalus:treatment options and considerations[J].World Neurosurg,2019,128:e664-e668.DOI:10.1016/j.wneu.2019.04.231.
6 Roth J,Ber R,Wisoff JH,et al.Endoscopic third ventriculostomy in patients with neurofibromatosis type 1:a multicenter international experience[J].World Neurosurg,2017,107:623-629.DOI:10.1016/j.wneu.2017.08.053.
7 Breik O,Mahindu A,Moore MH,et al.Central nervous system and cervical spine abnormalities in Apert syndrome[J].Childs Nerv Syst,2016,32(5):833-838.DOI:10.1007/s00381-016-3036-z.
8 Pauli RM.Achondroplasia:a comprehensive clinical review[J].Orphanet J Rare Dis,2019,14(1):1.DOI:10.1186/s13023-018-0972-6.
9 Hashmi SS,Gamble C,Hoover-Fong J,et al.Multicenter study of mortality in achondroplasia[J].Am J Med Genet A,2018,176(11):2359-2364.DOI:10.1002/ajmg.a.40528.
10 Dalla Corte A,de Souza CFM,Anés M,et al.Hydrocephalus and mucopolysaccharidoses:what do we know and what do we not know?[J].Childs Nerv Syst,2017,33(7):1073-1080.DOI:10.1007/s00381-017-3476-0.
11 Aliabadi H,Reynolds R,Powers CJ,et al.Clinical outcome of cerebrospinal fluid shunting for communicating hydrocephalus in mucopolysaccharidoses I,Ⅱ,and Ⅲ:a retrospective analysis of 13 patients[J].Neurosurgery,2010,67(6):1476-1482.DOI:10.1227/NEU.0b013e3181f8c11d.
12 Mirzaa GM,Conway RL,Gripp KW,et al.Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes:two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis[J].Am J Med Genet A,2016,158A(2):269-291.DOI:10.1002/ajmg.a.34402.
13 Barisic I,Boban L,Loane M,et al.Meckel-Gruber syndrome:a population-based study on prevalence,prenatal diagnosis,clinical features,and survival in Europe[J].Eur J Hum Genet,2015,23(6):746-752.DOI:10.1038/ejhg.2014.174.
14 Shim JW,Territo PR,Simpson S,et al.Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation[J].Sci Rep,2019,9:1069.DOI:10.1038/s41598-018-37620-5.
15 Fehrenbach MK,Nestler U,Meixensberger J,et al.Late-onset hydrocephalus in a child with Joubert syndrome:a case report[J].Childs Nerv Syst,2018,34(7):1423-1425.DOI:10.1007/s00381-018-3767-0.
16 Avagliano L,Massa V,George TM,et al.Overview on neural tube defects:From development to physical characteristics[J].Birth Defects Res,2019,111(19):1455-1467.DOI:10.1002/bdr2.1380.
17 Committee on Obstetric Practice,Society for Maternal-Fetal Medicine.Committee Opinion No.720:Maternal-fetal surgery for myelomeningocele[J].Obstet Gynecol,2017,130(3):e164-e167.DOI:10.1097/AOG.0000000000002303.
18 Elgamal EA.Natural history of hydrocephalus in children with spinal open neural tube defect[J].Surg Neurol Int,2012,3:112.DOI:10.4103/2152-7806.101801.
19 Walsh CA,Manzini MC,Hill HE,et al.Walker Warburg Syndrome[DB/OL](2016.09.07)[2019.07.17].https://rarediseases.org/rare-diseases/walker-warburg-syndrome/.
20 Priolo M,Schanze D,Tatton-Brown K,et al.Further delineation of Malan syndrome[J].Hum Mutat,2018,39:1226-1237.DOI:10.1002/humu.23563.
21 Priolo M.Nuclear factor one X mice model for Malan syndrome:the less the better[J].EBio Medicine,2019,39:15-16.DOI:10.1016/j.ebiom.2018.11.065.
22 Lim JJ,Yoon SH.The first neurosurgical analysis of 8 Korean children with sotos syndrome[J].J Korean Neurosurg Soc,2008,44:240-244.DOI:10.3340/jkns.2008.44.4.240.

备注/Memo

收稿日期:2019-09-24。
基金项目:海南省重点研发计划项目(编号:ZDYF2020225)
通讯作者:顾硕,Email:gushuo007@163.com

更新日期/Last Update: 1900-01-01