The Case of the Missing Nose: Congenital Arhinia Case Presentation and Management Recommendations.

TitleThe Case of the Missing Nose: Congenital Arhinia Case Presentation and Management Recommendations.
Publication TypeJournal Article
Year of Publication2020
AuthorsFuller AK, McCrary HC, M Graham E, Skirko JR
JournalAnn Otol Rhinol Laryngol
Date Published2020 Jul
KeywordsAirway Management, Chromosomal Proteins, Non-Histone, Craniofacial Abnormalities, Disease Management, Humans, Infant, Newborn, Magnetic Resonance Imaging, Male, Mutation, Missense, Nose, Prenatal Diagnosis, Prostheses and Implants, Reconstructive Surgical Procedures, Tomography, X-Ray Computed, Tracheostomy, Ultrasonography, Prenatal

OBJECTIVES: To discuss the presentation and management of infants with arhinia or congenital absence of the nose.

METHODS: 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.

RESULTS: 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.

CONCLUSION: 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.

Alternate JournalAnn Otol Rhinol Laryngol
PubMed ID32100546
Faculty Reference: 
Jonathan Skirko, MD, MHPA, MPH