Congenital and iatrogenic laryngeal and vocal abnormalities in patients with 22q11.2 deletion

Ebert, Bridget; Sidman, James D.; Morrell, Noëlle; Roby, Brianne Barnett

doi:10.1016/j.ijporl.2018.03.006

Cited by 13 publications

(18 citation statements)

References 10 publications

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“…Although relatively uncommon, congenital webs have been an area of active investigation, particularly the link between laryngeal webs and 22q11.2 deletion syndrome and contemporary surgical management. 6,7,15 Acquired laryngeal webs have also been studied, although not as commonly in the pediatric population. Etiologies described in the literature include intubation trauma, external laryngeal trauma, caustic ingestion, endolaryngeal surgery, and laryngeal tumors.…”

Section: Discussionmentioning

confidence: 99%

Laryngeal Web in the Pediatric Population: Evaluation and Management

Lawlor

Dombrowski

Nuss

et al. 2019

Otolaryngol.--head neck surg.

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Objective To discuss the presentation, evaluation, and management of pediatric laryngeal web. Study Design Retrospective case series. Setting Single tertiary care center. Subjects All patients with laryngeal web at Boston Children’s Hospital in the past 22 years. Methods No exclusion criteria. Charts mined for age at presentation, presenting symptoms, degree/location of web, associated syndromes, number/type of surgical procedures, and postoperative outcomes. Results Thirty-seven patients were included (13 male, 24 female). Average age at diagnosis was 3.7 years (0-19.5 years). Mean follow-up was 4.4 years (range, 0-16.4 years). There were 26 congenital webs (70.2%) and 11 acquired webs (29.8%). Presenting symptoms were vocal (29 patients, 78.4%) and respiratory (22 patients, 60%). Underlying syndromes or synchronous airway lesions included the following: premature (n = 5), congenital heart disease (n = 18), subglottic stenosis (n = 5), 22q11.2 deletion syndrome (n = 10), and recurrent respiratory papillomatosis (n = 4). There were 20 type 1 webs, 6 type 2 webs, 8 type 3 webs, and 3 type 4 webs; 10 had subglottic extension of the laryngeal web. Twelve patients were managed conservatively with observation. Eighty-four interventions were performed: 18 open and 66 endoscopic (sharp division, 32; dilation, 33; mitomycin C, 14; laser, 5; keel, 6; triamcinolone injection, 8; stent, 15; removal of granulation tissue, 5). Tracheotomy was required in 11 patients, and 5 patients were decannulated. Voice improved in 12 patients, with respiratory symptoms in 12 patients. Web recurred in 17 patients. One patient died due to airway complications. Conclusions Pediatric laryngeal web is an uncommon but challenging lesion. Patients need to be evaluated for comorbid syndromes and synchronous airway lesions. Management includes open and endoscopic procedures. Procedures should be tailored to the child’s presentation.

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Section: Discussionmentioning

confidence: 99%

Laryngeal Web in the Pediatric Population: Evaluation and Management

Lawlor

Dombrowski

Nuss

et al. 2019

Otolaryngol.--head neck surg.

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“…Die angeborenen subglottischen Stenosen können membranös oder knorpelig ausgeprägt sein und treten als Folge eines Entwicklungsfehlers während der Embryonalzeit auf und sind mit Syndromen, wie z. B. dem 22q11-Deletionssyndrom, dem Down-Syndrom oder dem CHARGE-Syndrom assoziiert [4,6,7,8]. Äußere Ursachen wie z.…”

Section: Konnatale Subglottische Stenosenunclassified

Subglottische Pathologien

Heyduck

Pickhard²,

Brosch

et al. 2019

Laryngo-Rhino-Otol

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ZusammenfassungSubglottische Pathologien sind sehr selten und manifestieren sich mit einem unspezifischen klinischen Erscheinungsbild in Form einer Gewebevermehrung auf Höhe des Ringknorpels bzw. der cranialen Trachea, was die Diagnose verschleiert. Typische Symptome solcher Patienten sind Heiserkeit, Reizhusten, ein Fremdkörpergefühl sowie Dyspnoe bzw. Stridor. Differenzialdiagnostisch kommen verschiedene Erkrankungen in Frage: Benigne Erkrankungen wie Folgen eines Traumas (z. B. Stenosen), Entzündungen (z. B. Pseudokrupp), rheumatische Erkrankungen (z. B. Granulomatose mit Polyangiitis) oder gutartige Tumore (z. B. Papillom, Hämangiom oder Granularzelltumor). Auch maligne Erkrankungen wie z. B. ein Plattenepithelkarzinom des Larynx, ein Chondrosarkom oder sehr selten eine laryngeale Lymphommanifestation müssen differenzialdiagnostisch in Erwägung gezogen werden. Idiopathische Formen ohne erkennbare Ursache sind ebenfalls denkbar. Zur Diagnosesicherung wird bei tumorösen Veränderungen in der Regel eine Probeexzision mit histologischer Aufarbeitung durchgeführt. Die Therapie erfolgt in Abhängigkeit vom histologischen Ergebnis – bei soliden tumorösen Erkrankungen üblicherweise chirurgisch oder durch eine Lokal- bzw. Systemtherapie im interdisziplinären Kontext.

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“…These include increased pharyngeal depth, reduced velar thickness, carotid artery anomalies, laryngeal web, subglottic stenosis, cervical spine anomalies, CHD, thrombocytopenia, and hypocalcemia attributable to primary hypoparathyroidism. [1][2][3][4] There is an increased risk for comorbid genetic conditions with serious complications, including platelet dysfunction and life-threatening arrhythmia. 1,5 Clinical practice guidelines have been established for the multisystem management of pediatric patients with 22q11.2DS.…”

Section: Introductionmentioning

confidence: 99%

Optimizing Safety in Velopharyngeal Insufficiency Surgery for Children with 22q11.2 Deletion Syndrome

Kim

Ranganathan

Redett

et al. 2021

FACE

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22q11.2 microdeletion syndrome (22q11.2DS) is a common genetic condition associated with structural and functional velopharyngeal anomalies. However, not all patients with 22q11.2DS presenting for treatment will have an established diagnosis and/or have been evaluated for critical medical comorbidities including congenital cardiovascular anomalies, bleeding diatheses, hypocalcemia, and cervical spine instability. When considering surgical management for patients with velopharyngeal insufficiency (VPI), it is imperative to be aware of the clinical features of 22q11.2DS to avoid serious morbidity and mortality. This is illustrated here with 2 case examples. First, a 10-year-old male with 22q11.2DS presented at 6 years old for treatment of VPI associated with submucous cleft palate. Preoperative computed tomographic angiography revealed right carotid artery tortuosity and retropharyngeal displacement, while intraoperative Doppler ultrasound confirmed carotid artery medialization at the base of the proposed flap. Consequently, he underwent Furlow palatoplasty instead of pharyngeal flap. Second, a 5-year-old male with 22q11.2DS presented at 4 years old for treatment of VPI. Palatal lengthening with double-opposing buccal flaps was performed to mitigate the risk for carotid artery injury, need for preoperative imaging, and risk for developing obstructive sleep apnea (OSA). Right carotid artery medialization was seen intraoperatively as marked pulsations. Both patients underwent cardiac and anesthesia evaluations prior to surgery given their histories of congenital heart defects (CHD) and prior postoperative hypocalcemia.

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Congenital and iatrogenic laryngeal and vocal abnormalities in patients with 22q11.2 deletion

Cited by 13 publications

References 10 publications

Laryngeal Web in the Pediatric Population: Evaluation and Management

Laryngeal Web in the Pediatric Population: Evaluation and Management

Subglottische Pathologien

Optimizing Safety in Velopharyngeal Insufficiency Surgery for Children with 22q11.2 Deletion Syndrome

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