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| 产前诊断Joubert综合征一例并文献复习 |
| 温弘1, 陈璐1, 严恺2, 贺晶1 |
1. 浙江大学医学院附属妇产科医院产科, 浙江 杭州 310006;
2. 浙江大学医学院附属妇产科医院生殖遗传科 生殖遗传教育部重点实验室, 浙江 杭州 310006 |
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| Prenatal diagnosis of Joubert syndrome:one case report and literature review |
| WEN Hong1, CHEN Lu1, YAN Kai2, HE Jing1 |
1. Department of Obstetrics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China;
2. Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou 310006, China |
| [1] ROMANI M, MICALIZZI A, VALENTE E M. Joubert syndrome:congenital cerebellar ataxia with the molar tooth[J]. Lancet Neurol,2013,12(9):894-905.
[2] PARISI M A. Clinical and molecular features of Joubert syndrome and related disorders[J]. Am J Med Genet C Semin Med Genet,2009,151C(4):326-340.
[3] BRANCATI F, DALLAPICCOLA B, VALENTE E M. Joubert syndrome and related disorders[J]. Orphanet J Rare Dis,2010,5:20.
[4] PUGASH D, OH T, GODWIN K, et al. Sonographic ‘molar tooth’ sign in the diagnosis of Joubert syndrome[J]. Ultrasound Obstet Gynecol,2011,38(5):598-602.
[5] BOLTSHAUSER E, ISLER W. Joubert syndrome:episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis[J]. Neuropadiatrie,1977,8(1):57-66.
[6] 朱珍,帕米尔,朱杰明,等.Joubert综合征的CT和MRI诊断[J].中华放射学杂志,2005,39(12):1256-1259. ZHU Zhen, PA Mier, ZHU Jieming, et al. CT and MRI diagnosis of Joubert syndrome[J]. Chinese Journal of Radiology,2005,39(12):1256-1259. (in Chinese)
[7] SALEEM S N, ZAKI M S. Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders[J]. AJNR Am J Neuroradiol,2010,31(3):424-429.
[8] QUARELLO E, MOLHO M, GAREL C, et al. Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders[J]. Ultrasound Obstet Gynecol,2014,43(2):227-232.
[9] MARIA B L, QUISLING R G, ROSAINZ L C, et al. Molar tooth sign in Joubert syndrome:clinical, radiologic, and pathologic significance[J]. J Child Neurol,1999,14(6):368-376.
[10] PORETTI A, BOLTSHAUSER E, LOENNEKER T, et al. Diffusion tensor imaging in Joubert syndrome[J]. AJNR Am J Neuroradiol,2007,28(10):1929-1933.
[11] 赵胜,陈欣林,杨小红,等.产前超声、MRI诊断Joubert综合征及相关小脑异常的临床研究[J].中华超声影像学杂志,2015,24(10):907-909. ZHAO Sheng, CHEN Xinlin, YANG Xiaohong, et al. Prenatal ultrasound and MRI diagnosis of Joubert syndrome and cerebellum disorders[J]. Chinese Journal of Ultrasonography,2015,24(10):907-909. (in Chinese)
[12] MARIA B L, HOANG K B, TUSA R J, et al. "Joubert syndrome" revisited:key ocular motor signs with magnetic resonance imaging correlation[J]. J Child Neurol,1997,12(7):423-430.
[13] VALENTE E M, BRANCATI F, BOLTSHAUSER E, et al. Clinical utility gene card for:Joubert syndrome-update 2013[J]. Eur J Hum Genet,2013,21(10):1035-1041.
[14] YING S H, CHOI S I, PERLMAN S L, et al. Pontine and cerebellar atrophy correlate with clinical disability in SCA2[J]. Neurology,2006,66(3):424-426.
[15] ZAKI M S, ABDEL-ALEEM A, ABDEL-SALAM G, et al. The molar tooth sign:a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families[J]. Neurology,2008,70(7):556-565.
[16] VALENTE E M, MARSH S E, CASTORI M, et al. Distinguishing the four genetic causes of Jouberts syndrome-related disorders[J]. Ann Neurol,2005,57(4):513-519.
[17] SUZUKI T, MIYAKE N, TSURUSAKI Y, et al. Molecular genetic analysis of 30 families with Joubert syndrome[J]. Clin Genet,2016,90(6):526-535.
[18] SALEEM S N, ZAKI M S, SOLIMAN N A, et al. Prenatal magnetic resonance imaging diagnosis of molar tooth sign at 17 to 18 weeks of gestation in two fetuses at risk for Joubert syndrome and related cerebellar disorders[J]. Neuropediatrics,2011,42(1):35-38. |
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