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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.

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/e566cc4d3422/amjcaserep-15-115-g001.jpg

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