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先天性无鼻:1例罕见病例。

Congenital arhinia: A rare case.

作者信息

Zhang Mao-Mao, Hu Yang-Hong, He Wei, Hu Kui-Kui

机构信息

Department of Plastic Surgery, Guangdong Women and Children's Hospital, Guangzhou Medical University, Guangzhou, China.

Department of Plastic Surgery, Second Affiliated Hospital To Nanchang University, Nanchang, China.

出版信息

Am J Case Rep. 2014 Mar 18;15:115-8. doi: 10.12659/AJCR.890072. eCollection 2014.

DOI:10.12659/AJCR.890072
PMID:24678375
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3966695/
Abstract

PATIENT

Male, 4 months

FINAL DIAGNOSIS

Congenital arhynia Symptoms: Absence of the nose Medication: - Clinical Procedure: - Specialty: Pediatrics and Noenatology • Genetics.

OBJECTIVE

Congenital defects.

BACKGROUND

Congenital nasal absence (arhinia) is an extremely rare malformation. Arhinia causes severe airway obstruction and poor feeding in the affected neonate. There is an association with other facial anomalies, especially defects of the eyes, ears, palate, and midline defects.

CASE REPORT

A full-term boy was born via an uncomplicated vaginal delivery. The mother was 40 years old and had a normal pregnancy. The mother had 4 previous uncomplicated pregnancies. There was no history of drug use during pregnancy.

CONCLUSIONS

Congenital arhinia is a rare defect of embryogenesis, often associated with other anomalies that significantly influence the immediate and long-term outcomes of the neonate. It is a potentially life-threatening condition and requires the presence of a highly skilled neonatal resuscitation team at the time of delivery. Parental counseling is vital and a multidisciplinary team approach is required to optimize neonatal outcome.

摘要

患者

男性,4个月

最终诊断

先天性无鼻症

症状

无鼻

用药情况

临床操作

专科

儿科与新生儿学•遗传学

目的

先天性缺陷

背景

先天性鼻缺失(无鼻症)是一种极其罕见的畸形。无鼻症会导致受影响的新生儿出现严重的气道阻塞和喂养困难。它与其他面部畸形有关,尤其是眼部、耳部、腭部缺陷以及中线缺陷。

病例报告

一名足月儿经顺产出生,无并发症。母亲40岁,孕期正常。母亲之前有过4次无并发症的妊娠。孕期无用药史。

结论

先天性无鼻症是一种罕见的胚胎发育缺陷,常与其他异常相关,这些异常会显著影响新生儿的近期和远期预后。这是一种潜在的危及生命的疾病,分娩时需要有技术精湛的新生儿复苏团队在场。对父母的咨询至关重要,需要采用多学科团队方法来优化新生儿的预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f49/3966695/44c75d56e0e2/amjcaserep-15-115-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f49/3966695/e566cc4d3422/amjcaserep-15-115-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f49/3966695/56c7d57e2b43/amjcaserep-15-115-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f49/3966695/44c75d56e0e2/amjcaserep-15-115-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f49/3966695/e566cc4d3422/amjcaserep-15-115-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f49/3966695/56c7d57e2b43/amjcaserep-15-115-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f49/3966695/44c75d56e0e2/amjcaserep-15-115-g003.jpg

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本文引用的文献

1
The role of maxillary osteotomy in the treatment of arhinia.上颌骨截骨术在无鼻畸形治疗中的作用。
J Oral Maxillofac Surg. 2012 May;70(5):e361-8. doi: 10.1016/j.joms.2012.01.009. Epub 2012 Feb 23.
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Congenital arhinia: case report of a rare congenital anomaly.先天性无鼻:一种罕见先天性畸形病例报告。
Arch Iran Med. 2011 Sep;14(5):355-6.
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Congenital arhinia: A rare case.先天性无鼻:1例罕见病例。
Ghana Med J. 2022 Sep;56(3):231-235. doi: 10.4314/gmj.v56i3.14.
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Bosma Arhinia Microphthalmia Syndrome (BAMS): First Report from Vietnam.博斯马无鼻小眼综合征(BAMS):来自越南的首例报告。
Cureus. 2023 Feb 20;15(2):e35222. doi: 10.7759/cureus.35222. eCollection 2023 Feb.
5
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Mater Sociomed. 2022 Sep;34(3):225-227. doi: 10.5455/msm.2022.34.225-227.
6
Prenatal Diagnosis of Arhinia.无鼻畸形的产前诊断。
AJP Rep. 2022 Aug 6;12(2):e127-e130. doi: 10.1055/s-0042-1748521. eCollection 2022 Apr.
7
Congenital Arhinia: A Rare Case Report and Review of Literature.先天性无鼻:一例罕见病例报告及文献综述
Indian J Otolaryngol Head Neck Surg. 2016 Dec;68(4):537-539. doi: 10.1007/s12070-016-1009-x. Epub 2016 Jul 8.
J Indian Assoc Pediatr Surg. 2008 Oct;13(4):153-4. doi: 10.4103/0971-9261.44771.
4
Prenatal diagnosis of total arhinia associated with normal chromosomal analysis: a case report.染色体分析正常情况下全鼻缺失的产前诊断:一例报告
J Reprod Med. 2009 Sep;54(9):579-82.
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[Congenital arhinia: one case report].[先天性无鼻畸形:一例报告]
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2009 Apr;44(4):343-4.
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Congenital partial arhinia: a case report.先天性部分无鼻畸形:一例报告
J Med Case Rep. 2007 Sep 20;1:97. doi: 10.1186/1752-1947-1-97.
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[The rare malformation of nasal aplasia].[罕见的鼻发育不全畸形]
Mund Kiefer Gesichtschir. 2006 Mar;10(2):106-17. doi: 10.1007/s10006-006-0680-6.
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Bosma arhinia microphthalmia syndrome.博斯马无鼻小眼综合征
Am J Med Genet A. 2006 Jan 15;140(2):189-93. doi: 10.1002/ajmg.a.31039.
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Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2).先天性无鼻伴新发相互易位,t(3;12)(q13.2;p11.2)
Am J Med Genet A. 2004 Oct 1;130A(2):200-3. doi: 10.1002/ajmg.a.30268.
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Vertical facial distraction in the treatment of arhinia.垂直面部牵张成骨术治疗无鼻畸形
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