A profile of the features and speech in patients with mandibulofacial dysostosis

To present a profile of the features and speech in patients with mandibulofacial dysostosis (MFD). Data were collected on occlusion, palatal condition, hearing, resonance, voice, and articulation.

Thirty patients with MFD ranging in age from 1.6 to 21.0 years.

Retrospective and prospective cross-sectional designs.

Pediatric tertiary care hospital.

Sixty percent of the patients had an open bite. Isolated cleft palate was found in 37% with other types of cleft conditions occurring less frequently. Twenty-three percent underwent tracheostomy. All patients demonstrated hearing loss, 93% were conductive and 7% were mixed. Resonance, voice, and articulation were also affected. Seventy-seven percent had aberrant resonance including hypernasality, hyponasality, mixed hyper- and hyponasality or muffled resonance, which was found in 40% of the patients. Voice quality was abnormal in 63%. All patients had articulation errors. Although overlap between categories occurred, results showed that 60% had errors related to malocclusion, 30% demonstrated errors usually associated with velopharyngeal inadequacy and 50% had general articulatory or phonological errors that could be attributed to other causes.

The features and speech of patients with MFD are complex. The speech disorders may have multiple overlapping etiologies that require careful differential diagnosis. This is imperative to establish appropriate treatment regimens and evaluate clinical outcomes.