RESUMO
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.
