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与弗雷泽综合征相关的耳鼻喉科异常:病例报告及文献综述

ENT abnormalities associated with Fraser syndrome: case report and literature review.

作者信息

Mina M M, Greenberg C, Levin B

机构信息

Department of Otolaryngology, University of Manitoba, Winnipeg, Canada.

出版信息

J Otolaryngol. 1988 Aug;17(5):233-6.

PMID:3216446
Abstract

Fraser syndrome is an uncommon genetic disorder characterized by multiple congenital abnormalities. Newborns afflicted with this syndrome have abnormalities of the eyes, ears, nose, larynx, palate, extremities and urogenital system. A review of the literature shows a deficiency in the description of the ENT abnormalities. Most articles have appeared in the ophthalmologic literature with emphasis on the obvious ocular abnormalities. In this paper we will describe in detail, the ear, nose and throat abnormalities in a two-year-old child with Fraser syndrome.

摘要

弗雷泽综合征是一种罕见的遗传性疾病,其特征为多种先天性异常。患有这种综合征的新生儿存在眼睛、耳朵、鼻子、喉、腭、四肢及泌尿生殖系统的异常。文献综述显示,耳鼻喉异常的描述存在不足。大多数文章发表在眼科文献中,重点关注明显的眼部异常。在本文中,我们将详细描述一名患有弗雷泽综合征的两岁儿童的耳、鼻和喉异常情况。

相似文献

1
ENT abnormalities associated with Fraser syndrome: case report and literature review.与弗雷泽综合征相关的耳鼻喉科异常:病例报告及文献综述
J Otolaryngol. 1988 Aug;17(5):233-6.
2
[Malformations in otorhinolaryngology. Genetic report].
Arch Klin Exp Ohren Nasen Kehlkopfheilkd. 1972;202(2):253-62.
3
Fraser syndrome: a case report and review of the otolaryngologic manifestations.弗雷泽综合征:一例病例报告及耳鼻喉科表现综述
Int J Pediatr Otorhinolaryngol. 1995 Jan;31(1):85-90. doi: 10.1016/0165-5876(94)01058-6.
4
Toriello-Carey syndrome: report of a new case.托列洛-凯里综合征:一例新病例报告。
Clin Dysmorphol. 1993 Jul;2(3):260-3.
5
ENT manifestations of Fraser syndrome.
J Laryngol Otol. 1992 Jan;106(1):1-4. doi: 10.1017/s0022215100118444.
6
Clinical manifestations and oral findings in Fraser syndrome.弗雷泽综合征的临床表现及口腔检查结果
J Dent Child (Chic). 2007 Sep-Dec;74(3):231-5.
7
[Genetic morphological fatal syndromes. The cryptophthalmos syndrome (Fraser syndrome)].[遗传性形态学致死综合征。隐眼综合征(弗雷泽综合征)]
Pathologe. 1993 Mar;14(2):94-5.
8
Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.一种类似科芬-西里斯综合征的常染色体隐性遗传模式。
Genet Couns. 1995;6(4):309-12.
9
[Fraser syndrome: frequency in our environment and clinical-epidemiological aspects of a consecutive series of cases].[弗雷泽综合征:在我们所处环境中的发病率以及一系列连续病例的临床流行病学特征]
An Esp Pediatr. 1998 Jun;48(6):634-8.
10
[The cryptophthalmus syndrome (author's transl)].[隐眼综合征(作者译)]
Klin Padiatr. 1973 May;185(3):165-72.

引用本文的文献

1
Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review.弗雷泽综合征中泪道系统发育不全及泪囊膨出的内镜治疗:病例报告及文献综述
Allergy Rhinol (Providence). 2018 Oct 22;9:2152656718804905. doi: 10.1177/2152656718804905. eCollection 2018 Jan-Dec.
2
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.弗雷泽综合征与隐眼畸形:复杂畸形综合征诊断标准及表型模块证据综述
J Med Genet. 2002 Sep;39(9):623-33. doi: 10.1136/jmg.39.9.623.