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半叶全前脑畸形——一种可怕的先天性异常。

Semilobarholoprosencephaly - A Dreading Congenital Anomaly.

作者信息

Lakhkar Bhushita B, Lakhkar Bhushan N, Lakhkar Bhavana B

机构信息

Assistant Professor, Department of Radiology, Shri B M Patil Medical College, Hospital and Research Center, Bijapur, Karnataka, India.

Profeesor and Head, Department of Radiology, Shri B M Patil Medical College, Hospital and Research Center, Bijapur, Karnataka, India.

出版信息

J Clin Diagn Res. 2017 Jun;11(6):TD03-TD04. doi: 10.7860/JCDR/2017/26530.10105. Epub 2017 Jun 1.

DOI:10.7860/JCDR/2017/26530.10105
PMID:28764265
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5535455/
Abstract

Holoprosencephaly (HPE) is a group of structural abnormalities of brain that is an important cause of childhood mortality and morbidity. They usually occur due to impaired midline cleavage of embryonic forebrain i.e., failure of differentiation of the prosencephalon into the telecephalon and diencephalon. De Myer classified this anomaly ranging from alobar to semilobar and lobar type. It can be associated with microcephaly and midline facial anomalies. We present a case of semilobar holoprosencephaly with corpus callosal agenesis.

摘要

前脑无裂畸形（HPE）是一组脑结构异常，是儿童死亡和发病的重要原因。它们通常是由于胚胎前脑的中线分裂受损，即原脑分化为端脑和间脑失败所致。De Myer将这种异常分为无叶型、半叶型和叶型。它可能与小头畸形和中线面部异常有关。我们报告一例伴有胼胝体发育不全的半叶型前脑无裂畸形病例。

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本文引用的文献

1
Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report.一名患有1型糖尿病的初产妇所生12个月大男婴的半叶型全前脑畸形：病例报告
J Med Case Rep. 2016 Dec 20;10(1):358. doi: 10.1186/s13256-016-1141-y.
2
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.前脑无裂畸形：对该病症的综述，包括胚胎学与胎儿影像学
Radiographics. 2015 Jan-Feb;35(1):275-90. doi: 10.1148/rg.351140040.
3
Antenatal diagnosis of alobar holoprosencephaly.无脑叶全前脑畸形的产前诊断。
Case Rep Radiol. 2014;2014:724671. doi: 10.1155/2014/724671. Epub 2014 Jul 14.
4
Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation.神经影像学在全前脑畸形中的进展：细化中线畸形的谱系。
Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):120-32. doi: 10.1002/ajmg.c.30238.
5
Sonoembryology and early prenatal diagnosis of neural anomalies.超声胚胎学与神经管畸形的早期产前诊断
Prenat Diagn. 2009 Apr;29(4):312-25. doi: 10.1002/pd.2170.
6
Disorders of prosencephalic development.前脑发育障碍。
Prenat Diagn. 2009 Apr;29(4):340-54. doi: 10.1002/pd.2208.
7
Holoprosencephaly: clinical, anatomic, and molecular dimensions.全前脑畸形：临床、解剖及分子层面
Birth Defects Res A Clin Mol Teratol. 2006 Sep;76(9):658-73. doi: 10.1002/bdra.20295.
8
Evaluation and management of children with holoprosencephaly.全前脑畸形患儿的评估与管理
Pediatr Neurol. 2004 Aug;31(2):79-88. doi: 10.1016/j.pediatrneurol.2004.03.006.
9
Holoprosencephaly in children: diffusion tensor MR imaging of white matter tracts of the brainstem--initial experience.儿童全前脑畸形：脑干白质束的扩散张量磁共振成像——初步经验
Radiology. 2002 Jun;223(3):645-51. doi: 10.1148/radiol.2233011197.