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无脑叶全前脑畸形、尿崩症和无颅面异常的脉络膜缺损：一例报告

Alobar holoprosencephaly, diabetes insipidus and coloboma without craniofacial abnormalities: a case report.

作者信息

Van Gool S, de Zegher F, de Vries L S, Vanderschueren-Lodeweyckx M, Devlieger H, Casaer P, Eggermont E

机构信息

Department of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.

出版信息

Eur J Pediatr. 1990 Jun;149(9):621-2. doi: 10.1007/BF02034747.

DOI:10.1007/BF02034747
PMID:2373111
Abstract

An infant is described with coloboma of the right eye, holoprosencephaly and diabetes insipidus without craniofacial malformations. The association is discussed in view of the development of the prosencephalon and its relation to the development of craniofacial structures.

摘要

本文描述了一名患有右眼缺损、全前脑畸形和尿崩症但无颅面畸形的婴儿。鉴于前脑的发育及其与颅面结构发育的关系，对这种关联进行了讨论。

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Alobar holoprosencephaly, diabetes insipidus and coloboma without craniofacial abnormalities: a case report.无脑叶全前脑畸形、尿崩症和无颅面异常的脉络膜缺损：一例报告
Eur J Pediatr. 1990 Jun;149(9):621-2. doi: 10.1007/BF02034747.
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Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):246-257. doi: 10.1002/ajmg.c.31616. Epub 2018 May 15.
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Use of Chlorothiazide in the Management of Central Diabetes Insipidus in Early Infancy.氯噻嗪在婴儿早期中枢性尿崩症管理中的应用。
Case Rep Pediatr. 2017;2017:2407028. doi: 10.1155/2017/2407028. Epub 2017 May 3.

本文引用的文献

1
THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY).面部预示大脑：正中面部异常对全前脑畸形（无脑回畸形）的诊断意义。
Pediatrics. 1964 Aug;34:256-63.
2
Pathoarchitectonic studies of cerebral malformations. III. Arrhinencephalies (holotelencephalies).脑畸形的病理结构研究。III. 无嗅脑（全前脑）
J Neuropathol Exp Neurol. 1959 Jan;18(1):22-55. doi: 10.1097/00005072-195901000-00003.
3
An update on the holoprosencephalic disorders.全前脑畸形疾病的最新进展
J Pediatr. 1982 Nov;101(5):865-9. doi: 10.1016/s0022-3476(82)80349-1.
4
Familial holoprosencephaly with endocrine dysgenesis.伴有内分泌发育不全的家族性全前脑畸形。
J Pediatr. 1968 Jan;72(1):81-7. doi: 10.1016/s0022-3476(68)80403-2.
5
Mapping of the early neural primordium in quail-chick chimeras. I. Developmental relationships between placodes, facial ectoderm, and prosencephalon.鹌鹑-鸡嵌合体中早期神经原基的图谱。I. 基板、面部外胚层和前脑之间的发育关系。
Dev Biol. 1985 Aug;110(2):422-39. doi: 10.1016/0012-1606(85)90101-0.
6
Mapping of the early neural primordium in quail-chick chimeras. II. The prosencephalic neural plate and neural folds: implications for the genesis of cephalic human congenital abnormalities.鹌鹑-鸡嵌合体早期神经原基的定位。II. 前脑神经板和神经褶：对人类头部先天性异常发生的影响。
Dev Biol. 1987 Mar;120(1):198-214. doi: 10.1016/0012-1606(87)90118-7.
7
Arhinencephaly. The spectrum of associated malformations.
Brain. 1987 Feb;110 ( Pt 1):237-60. doi: 10.1093/brain/110.1.237.
8
[Associated morphological anomalies of the face and brain in infants].
Arch Fr Pediatr. 1988 Feb;45(2):99-104.
9
Clinical experience with desmopressin: efficacy and safety in central diabetes insipidus and other conditions.去氨加压素的临床经验：在中枢性尿崩症及其他病症中的疗效与安全性
J Pediatr. 1989 Apr;114(4 Pt 2):711-8. doi: 10.1016/s0022-3476(89)80886-8.
10
Magnetic resonance imaging in diabetes insipidus.
Lancet. 1989 Apr 22;1(8643):901. doi: 10.1016/s0140-6736(89)92893-6.