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Purpose: 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., Patients: Thirty patients with MFD ranging in age from 1.6 to 21.0 years., Study Design: Retrospective and prospective cross-sectional designs., Setting: Pediatric tertiary care hospital., Results: 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., Conclusions: 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.

Objective: To monitor and compare facial morphology and growth in three individuals with variable expression of mandibulofacial dysostosis (MFD) in terms of changes in the skeletal profile and in terms of growth in the circummaxillary sutures and temporomandibular joints (TMJs)., Design: Retrospective conventional profile roentgenography (mean age 9 to 18 years) and prospective roentgen stereometric analysis (RSA) (mean age 7 to 17 years)., Setting: Center for Craniofacial Anomalies and Department of Plastic and Reconstructive Surgery, Malmö University Hospital, Sweden., Patients: The first three MFD patients seen by one of the authors (B.R.)., Interventions: Surgery was performed at the Department of Plastic and Reconstructive Surgery. Implants were inserted at surgery under general anesthesia. Roentgen examinations were performed in connection with continued clinical evaluations and treatment., Main Outcome Measures: All profile roentgenograms were traced and measured by one of the authors (K.-V.S.) using a conventional point-based analysis., Results: The more afflicted patient showed a greater total difference in profile morphology and growth from the norm and more pronounced effects of articular growth restriction. Little change in the skeletal profile was associated with considerable displacement of the jaws., Conclusions: The variability in MFD expression and surgical procedures in our patients is reflected less in the skeletal profile morphology and growth and more in the displacement of the jaws.

Although the hearing loss of patients with Treacher Collins syndrome is well documented, few studies have reported jointly on their hearing loss and ear pathology. This paper reports on the hearing loss and computerized tomography (CT) assessments of ear malformations in a large pediatric series of patients with Treacher Collins. Of the 29 subjects assessed by the Craniofacial Program between 1986 and 1990, paired audiologic and complete CT assessments were available for 23 subjects. The external ear canal abnormalities were largely symmetric, either bilaterally stenotic or atretic. In most cases, the middle ear cavity was bilaterally hypoplastic and dysmorphic, and ossicles were symmetrically dysmorphic or missing. Inner ear structures were normal in all patients. The majority of patients had a unilateral or bilateral moderate or greater degree of hearing loss and almost half had an asymmetric hearing loss. The hearing loss of all subjects was conductive, except for three whose loss was bilateral mixed. Two types of bilaterally symmetric hearing loss configurations, flat and reverse sloping, were noted. Conductive hearing loss in patients with Treacher Collins is mainly attributable to their middle ear malformations, which are similar for those of patients with malformed or missing ossicles.