Evaluation of Pharyngeal and Laryngeal Structure and Function in Patients with Oculo-Auriculo-Vertebral Spectrum

Abstract

Objective This study described the occurrence and expression of pharyngeal and laryngeal anomalies in a population of patients with oculo-auriculo-vertebral spectrum (OAVS). Design Cross-sectional study using chart review, physical examination, and endoscopic evaluation of the pharynx and larynx, and perceptual and aerodynamic evaluation of speech for assessment of vocal tract function. Setting Academic tertiary referral center. Patients Chart review of 41 patients with a diagnosis of OAVS and clinical evaluation of 23 of the patients identified in the initial chart review, ranging in age from 9 months to 17 years. Main outcome Measures Data from chart review pertaining to airway and speech symptoms. Physical examination and endoscopic studies of pharyngeal and laryngeal structure and function and perceptual and aerodynamic evaluation of speech, resonance, and voice. Results Chart review showed a high occurrence of indicators of pharyngeal and laryngeal abnormalities such as velopharyngeal inadequacy and airway obstruction. Clinical evaluations documented a variety of abnormalities in pharyngeal and laryngeal structure and function as well as impairment in speech articulation, resonance, and voice. Presence and severity of pharyngeal and laryngeal abnormalities were not correlated with the severity of expression of the spectrum based on mandibular morphology. Conclusions Oculo-auriculo-vertebral spectrum appears to be associated with a high occurrence of structural and functional abnormalities of the pharynx and larynx that may contribute to increased risk of airway obstruction, communication impairment, and morbidity.

The use of diagnostic sleep nasendoscopy in the management of children with complex upper airway obstruction

“…It is our experience that children with Down's syndrome and upper airway obstruction also have a higher incidence of innominate artery compression of the trachea than normal children. The incidence of distal airway abnormality in other syndromes is unknown but laryngeal abnormalities have been described in Goldenhar's syndrome 36 and major aortic arch abnormalities in velo‐cardio‐facial syndrome can cause tracheal compression 37 …”

Hearing impairment and ear anomalies in craniofacial microsomia: a systematic review

“…External ear malformations were described in 50 records (Supplementary Material Table S2) 5,[12][13][14][15]18,[20][21][22]24,[26][27][28][29][30][32][33][34][35][36][37][38][39][40][41][42][43][44][45][48][49][50][52][53][54][55][56][57][58][59][60][61][62][63][65][66][67]69,71,72 . Microtia, reported in 52-100% of patients, was described in 31 records 5,…”

“…Pre-auricular tags (14.4-90%) were described in 16 records 15,21,24,[26][27][28]33,39,40,44,49,50,52,55,59,66 and pre-auricular pits (2.3-20%) in seven records 15,21,26,28,39,59,66 . In four records, pre-auricular tags and pits were reported as one entity, being present in 42-70.6% 14,20,42,53 .…”

“…Hearing loss was reported in 29-100% of patients in 40 records (Table 3) 12,[14][15][16][17][18]20,21,[23][24][25][26][27][28][29][30]32,33,35,40,[42][43][44][45][46]48,49,[51][52][53][54][55]59,60,66,[68][69][70]72,73 . The type of hearing loss was specified in 21 records 12,15,20,21,23,[26][27][28]30,32,33,…”

Síndrome de Goldenhar: uma abordagem fonoaudiológica

“…Além da questão fonológica, o menino apresenta distorção na produção dos fonemas, o que vai ao encontro de outros estudos 26,27 que ao analisar pacientes com SG constataram a presença de alterações articulatórias, apesar de conseguirem produzir todos os fonemas. Distorções como estas podem ocorrem em virtude da dificuldade em adequar os pontos articulatórios imposta pelas deformidades craniofaciais.…”