Congenital anomalies of the neck
Congenital nasal anomalies
Genetic hearing loss
Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin.
A laryngo-tracheo-esophageal cleft is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.
Depending on the severity of the malformation, patients may present with stridor, hoarse cry, swallowing difficulties, aspirations, cough, dyspnea and cyanosis through to early respiratory distress. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft, which typically correlates with the severity of symptoms: Type 0 laryngo-tracheo-esophageal cleft to Type 4 laryngo-tracheo-esophageal cleft (see these terms). LC is often associated with other congenital abnormalities/anomalies (16% to 68%), mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4), and gastro-esophageal reflux disease (GERD). The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome.
The age of diagnosis depends mainly on the severity of the clinical symptoms and therefore on the extent of the LC. Diagnosis is made either based on clinical manifestations or on investigations, such as endoscopy, X-ray, CT scan, performed for other conditions.
Difficult airway informative videos
The tracheal cannula: Speaking valves and caps
3D video on Nasal intubation
Laryngotracheal stenosis (LTS) is a pathological narrowing of the larynx, subglottis and/or the trachea. This can be present at birth due to a genetic defect (congenital stenosis) or this can be an acquired condition, usually due to scarring of the airway by a ventilating tube.
Patients with LTS present with varying degrees of shortness of breath. In severe cases of LTS, a tracheostomy tube is necessary for adequate ventilation. A tracheostomy tube is surgically inserted in the trachea through the neck.
The treatment of LTS is complex and usually involves a multidisciplinary team of ENT surgeons, cardiothoracic surgeons, pediatric surgeons, pediatricians (pediatric ICU, pediatric pulmonologists) and speech and swallow therapists.