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一名女婴患有鼻咽部畸胎瘤（“毛发样息肉”）、Dandy-Walker畸形、膈疝及其他异常。

Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant.

作者信息

Aughton D J, Sloan C T, Milad M P, Huang T E, Michael C, Harper C

机构信息

Department of Pediatrics, William Beaumont Hospital, Royal Oak, Michigan 48073.

出版信息

J Med Genet. 1990 Dec;27(12):788-90. doi: 10.1136/jmg.27.12.788.

DOI:10.1136/jmg.27.12.788
PMID:2074566
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1017285/
Abstract

Nasopharyngeal teratomas are rare and are infrequently associated with extra-oral malformations. The case of a premature female infant with multiple congenital anomalies, including nasopharyngeal teratoma, Dandy-Walker malformation, diaphragmatic hernia, and congenital heart defect, is presented. This constellation of malformations does not appear to have been reported previously.

摘要

鼻咽部畸胎瘤较为罕见，很少伴有口腔外畸形。本文报道了一例早产女婴，患有多种先天性异常，包括鼻咽部畸胎瘤、丹迪-沃克畸形、膈疝和先天性心脏缺陷。这组畸形此前似乎未见报道。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5f5/1017285/01159da0edf2/jmedgene00050-0061-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5f5/1017285/8d6282835267/jmedgene00050-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5f5/1017285/29bf2bf2a1c1/jmedgene00050-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5f5/1017285/01159da0edf2/jmedgene00050-0061-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5f5/1017285/8d6282835267/jmedgene00050-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5f5/1017285/29bf2bf2a1c1/jmedgene00050-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5f5/1017285/01159da0edf2/jmedgene00050-0061-b.jpg

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本文引用的文献

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Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks.丹迪-沃克畸形：病因异质性与经验性复发风险
Clin Genet. 1985 Oct;28(4):272-83. doi: 10.1111/j.1399-0004.1985.tb00401.x.
2
Nasopharyngeal teratoma.鼻咽畸胎瘤
Turk J Pediatr. 1986 Apr-Jun;28(2):129-31.
3
Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia.弗林斯综合征：一种具有膈肌缺损、面容粗糙和远端肢体发育不全的可变型大脑中动脉综合征。
胼胝体发育不全或缺失后的脑可塑性：Probst束综述
Front Neuroanat. 2023 Nov 6;17:1296779. doi: 10.3389/fnana.2023.1296779. eCollection 2023.
4
CT and MRI Features of Hairy Polyps in Neonates and Infants: A Retrospective Study of 14 Patients.新生儿及婴儿毛发状息肉的CT与MRI特征：14例患者的回顾性研究
Diagnostics (Basel). 2023 Apr 3;13(7):1328. doi: 10.3390/diagnostics13071328.
5
Lateral ventricle pleomorphic xanthoastrocytoma concurrent with Dandy-Walker complex: A case report.侧脑室多形性黄色星形细胞瘤合并 Dandy-Walker 畸形：病例报告。
Medicine (Baltimore). 2022 Sep 9;101(36):e30492. doi: 10.1097/MD.0000000000030492.
6
Naso-oropharyngeal choristoma (hairy polyps): an overview and current update on presentation, management, origin and related controversies.鼻-口咽迷离瘤（毛发状息肉）：关于临床表现、治疗、起源及相关争议的概述与最新进展
Eur Arch Otorhinolaryngol. 2015 May;272(5):1047-59. doi: 10.1007/s00405-014-3050-2. Epub 2014 Apr 27.
7
Thoraco-abdominal mature teratoma in a left diaphragmatic hernia.左侧膈疝中的胸腹腔成熟性畸胎瘤。
Indian J Pediatr. 2010 May;77(5):563-4. doi: 10.1007/s12098-010-0020-6. Epub 2010 Feb 8.
J Med Genet. 1987 May;24(5):271-4. doi: 10.1136/jmg.24.5.271.
4
The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.表亲中的胼胝体发育不全综合征：临床特征谱的扩展及对常染色体隐性遗传的进一步支持
J Med Genet. 1988 May;25(5):332-6. doi: 10.1136/jmg.25.5.332.
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8
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