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Holoprosencephaly: report of four cases and genotype-phenotype correlations.

作者信息

Lami Francesca, Carli Diana, Ferrari Paola, Marini Monica, Alesi Viola, Iughetti Lorenzo, Percesepe Antonio

机构信息

Pediatrics Unit, Department of Mother and Child, University of Modena, Modena, Italy.

出版信息

J Genet. 2013 Apr;92(1):97-101. doi: 10.1007/s12041-013-0215-5.

DOI:10.1007/s12041-013-0215-5
PMID:23640411
Abstract
摘要

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Holoprosencephaly: report of four cases and genotype-phenotype correlations.全前脑畸形：4例报告及基因型-表型相关性
J Genet. 2013 Apr;92(1):97-101. doi: 10.1007/s12041-013-0215-5.
2
Prenatal diagnosis of de novo monosomy 7q33-qter associated with hydrops fetalis, semilobar holoprosencephaly, and premaxillary dysgenesis.与胎儿水肿、半叶前脑无裂畸形和上颌前部发育不全相关的新发7q33-qter单体型的产前诊断。
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Translocation 1q15q in a fetus with holoprosencephaly.全前脑畸形胎儿中的1q15q易位
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[Holoprosencephaly: criteria and consequences for prenatal diagnosis].[全前脑畸形：产前诊断的标准及后果]
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Alobar holoprosencephaly, proboscis and cyclopia in a chromosomally normal fetus: Prenatal diagnosis and fetal outcome.染色体正常胎儿中的无脑叶全前脑畸形、鼻畸形和独眼畸形：产前诊断及胎儿结局
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Alobar Holoprosencephaly Associated with Meningomyelocoele and Omphalocoele: An Unusual Coexistence.

本文引用的文献

1
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.396 名 Sonic Hedgehog 基因突变个体的基因表型分析。
J Med Genet. 2012 Jul;49(7):473-9. doi: 10.1136/jmedgenet-2012-101008.
2
Idiopathic syringomyelia: retrospective case series, comprehensive review, and update on management.特发性脊髓空洞症：回顾性病例系列、全面综述及治疗更新。
Neurosurg Focus. 2011 Dec;31(6):E15. doi: 10.3171/2011.9.FOCUS11198.
3
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.多种眼科异常是前脑无裂畸形谱系的一部分。
无脑叶全前脑畸形合并脊髓脊膜膨出和脐膨出：一种罕见的共存情况。
J Clin Diagn Res. 2016 Nov;10(11):ED23-ED24. doi: 10.7860/JCDR/2016/22453.8932. Epub 2016 Nov 1.
4
Developmental disorders of the dentition: an update.牙发育异常：最新进展。
Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):318-32. doi: 10.1002/ajmg.c.31382. Epub 2013 Oct 4.
Am J Med Genet A. 2011 Nov;155A(11):2713-20. doi: 10.1002/ajmg.a.34261. Epub 2011 Oct 4.
4
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.新发现：大型欧洲无脑回畸形病例系列中的表型-基因型相关性。
J Med Genet. 2011 Nov;48(11):752-60. doi: 10.1136/jmedgenet-2011-100339. Epub 2011 Sep 22.
5
Esophageal stenosis in a child presenting a de novo 7q terminal deletion.一名患有新发7号染色体长臂末端缺失的儿童出现食管狭窄。
Eur J Med Genet. 2010 Sep-Oct;53(5):333-6. doi: 10.1016/j.ejmg.2010.06.008. Epub 2010 Jun 22.
6
Analysis of genotype-phenotype correlations in human holoprosencephaly.人类前脑无裂畸形的基因型-表型相关性分析。
Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):133-41. doi: 10.1002/ajmg.c.30240.
7
Holoprosencephaly.前脑无裂畸形
Orphanet J Rare Dis. 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8.
8
Incomplete Currarino triad as an embryological variant. Case report and review of the literature.不完全性库里亚里诺三联征作为一种胚胎学变异。病例报告及文献复习。
J Neurosurg. 2006 Dec;105(6 Suppl):504-7. doi: 10.3171/ped.2006.105.6.504.
9
Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia.
Birth Defects Res A Clin Mol Teratol. 2007 Mar;79(3):249-51. doi: 10.1002/bdra.20340.
10
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.全前脑谱系特征患者中SHH、ZIC2、SIX3和TGIF基因的分子筛查：突变综述及基因型-表型相关性
Hum Mutat. 2004 Jul;24(1):43-51. doi: 10.1002/humu.20056.