Fuller Andrew K, McCrary Hilary C, Graham M Elise, Skirko Jonathan R
School of Medicine, University of Utah, Salt Lake City, UT, USA.
Division of Otolaryngology, University of Utah, Salt Lake City, UT, USA.
Ann Otol Rhinol Laryngol. 2020 Jul;129(7):645-648. doi: 10.1177/0003489420909415. Epub 2020 Feb 26.
To discuss the presentation and management of infants with arhinia or congenital absence of the nose.
This case report describes an infant with arhinia that was diagnosed prenatally. In addition to a discussion of the case, a review of the literature was completed to define appropriate postnatal work-up and management.
The patient is a term male infant, diagnosed with arhinia on ultrasound and magnetic resonance imaging (MRI) performed at 21-weeks gestational age. Upon birth, the patient was subsequently intubated, followed by tracheostomy due to complete nasal obstruction. Through a genetics evaluation, the patient was found to be heterozygous for the SMCHD1 gene, with hypomethylation at the locus. Plans for reconstruction will be based on future imaging and the development of any nasal patency, however, the patient's family plans to utilize a prosthetic nose until the patient is older.
Arhinia is a rare condition causing respiratory distress in the neonatal period. While stabilization of the airway is the first priority, further management is not clearly defined given the rarity of the malformation. This case discusses stabilization of the airway with a review of treatment and reconstructive options.
探讨无鼻畸形或先天性鼻缺失婴儿的临床表现及处理方法。
本病例报告描述了一名产前诊断为无鼻畸形的婴儿。除了对该病例进行讨论外，还完成了文献综述以确定合适的产后检查及处理方法。
该患者为足月儿男婴，在孕21周时经超声和磁共振成像（MRI）诊断为无鼻畸形。出生后，患者随即接受插管，后因完全性鼻阻塞而行气管造口术。通过基因评估，发现患者SMCHD1基因杂合，该位点存在低甲基化。重建计划将基于未来的影像学检查以及任何鼻通畅情况的发展而定，不过，患者家属计划在患者长大后之前使用义鼻。
无鼻畸形是一种在新生儿期引起呼吸窘迫的罕见病症。虽然气道稳定是首要任务，但鉴于该畸形的罕见性，进一步的处理方法尚无明确界定。本病例讨论了气道稳定情况，并对治疗和重建方案进行了综述。
