MANDIBULOFACIAL.html


    
        
            
                
                    

                

            

            
                

            

            
                Mandibulofacial dysostosis

                Hein Els, MB ChB, MFamMed, CCFP
            

            Shaun Scheepers, MB BCh
        

        Department of Diagnostic Radiology, Tygerberg Academic Hospital, Tygerberg, W Cape

        
            Corresponding author: H Els (els.hein@gmail.com)

            Two cases of children with Treacher Collins
            syndrome (mandibulofacial dysostosis) are presented, to illustrate the
            features of the syndrome. The cranial computed tomography (CT) scanning
            was performed to assist with surgical planning. Figs 1 and 2
            demonstrate some of the features associated with the syndrome.

            The syndrome known as Treacher Collins, or
            Franceschetti-Zwahlen-Klein, syndrome is a rare genetic disorder with
            an autosomal-dominant pattern of inheritance. It is named after the
            British ophthalmologist Edward Treacher Collins (1862 - 1932) who described the essential traits in 1900.1  This developmental disorder has an estimated prevalence of between 1 in 40 000 and 1 in 70 000 live births.2  In most cases, the diagnosis is evident at birth.

            The features may range from unnoticeable to severe.
            There are various dysmorphic features and signs affecting the face,
            skull, ears, eyes, nose, mouth, throat and mental status. Among others,
            these include hypoplastic zygomas, downward sloping palpebral fissures,
            malformed pinnae, abnormalities of the external auditory canal
            (stenosis or atresia), maldevelopment of the ossicles, absence of
            middle ear and tympanic spaces, pharyngeal hypoplasia, deficient
            mandibular rami and a cleft palate. The inner ears are usually normal,
            but these children may have conductive hearing loss owing to the
            absence of the middle ears. Although persons with mandibulofacial
            dysostosis usually have normal intelligence, developmental delay may
            occur if the hearing loss is not diagnosed. The differential diagnosis
            includes acrofacial dysostosis, oculoauriculovertebral spectrum and
            X-linked dominant maxillofacial dysostosis.3  CT or magnetic resonance imaging (MRI) is usually pursued prior to any surgical intervention.

            Treatment may require intubation after birth if the
            airway is compromised. The focus of the intervention is on symptom
            treatment and correction of anatomical deformities, which will
            inevitably require a multidisciplinary team approach with quite
            specific timing of interventions.

            
            

            1.	http://www.whonamedit.com/doctor.cfm/1393.html (accessed 3 November 2010).

            1.	http://www.whonamedit.com/doctor.cfm/1393.html (accessed 3 November 2010).

            2.	Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the Head and Neck. 4th ed. Oxford, UK: Oxford University Press, 2001.

            2.	Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the Head and Neck. 4th ed. Oxford, UK: Oxford University Press, 2001.

            3.	http://emedicine.medscape.com/article/946143-overview (accessed 3 November 2010).

            3.	http://emedicine.medscape.com/article/946143-overview (accessed 3 November 2010).

            
                
                    
                

                
                    Fig.
                    1. A 10-year-old girl. The 3D image demonstrates hypoplastic zygomas
                    with downward sloping orbits and atresia of the external auditory
                    canals. The mandible is also hypoplastic with a concave inferior
                    border. There is an artefact in the midline frontal.

                

            

            

        

        
            
                
            

            
                Fig. 2. An 11-month-old girl. The 3D image
                demonstrates the hypoplastic zygomas and mandibilar ramus. The orbits
                are down-sloping.