OBJECTIVE: To determine the clinical course and outcome of familial congenital laryngotracheal stenosis (FCLS).
METHODS: A literature search was conducted over a period of one month (September 2023) by searching several databases to identify studies published from inception to 31st August 2023.
RESULTS: Of 256 papers identified, five articles met the inclusion criteria. A total of 17 patients with slight female predominance (59 %) were identified. Familial congenital tracheal stenosis was reported in female twins (100 %). A variety of clinical presentations were listed. An endoscopic airway study was performed on all patients. 64.8 % of the included children were managed surgically. Genetic studies performed on 41 % of children could not locate genetic abnormalities.
CONCLUSION: Consanguinity, twin births, and female gender could be predisposing factors for FCLS, although the quality of evidence is low due to the rarity of the condition.
METHODS: A retrospective, single-centre cohort study was performed on all paediatric patients who had undergone laryngoscopy and LUS at Starship Children's Health in Auckland, NZ, between 2020 and 2023. An eight-question survey was also developed and distributed to better understand clinicians' use of LUS in their clinical practice to diagnose paediatric VFI globally.
RESULTS: Twenty-nine paediatric patients met the inclusion criteria. LUS demonstrated good sensitivity (80.95%) for detecting VFI and increased to 93.33% for the detection of unilateral VFI. Of the 87 respondents to the survey, 41.38% utilise LUS in their clinical practice in the paediatric population. The main barriers to implementation of LUS as identified by non-users were lack of equipment, expertise, and training.
CONCLUSIONS: These findings support the use of LUS as an accurate diagnostic tool for the detection of unilateral VFI. Further studies in non-surgical populations and in patients with bilateral VFI, as well as standardised guidelines for LUS technique and reporting, are required.