Mandibulofacial Dysostosis

Mandibulofacial dysostosis is a congenital syndrome which has been recognized in increasing numbers in the past two decades. This syndrome of congenital anomalies involving the mandible, maxillae, and ears was first noted by Berry (1) in 1889. Since then, 59 cases have been reported in the English and European literature. Some of the cases have been “complete” according to the classification of Franceschetti (8); others have shown only some of the anomalies included in the syndrome. Treacher Collins (5) reported 2 cases in 1900, and his name has since been associated with the syndrome. Franceschetti, who made an extensive review covering most of the cases published up to 1949, is associated with the syndrome in the European literature. Of the 59 reported cases, only 3 appear in the radiologic literature. We have had the opportunity recently to examine roentgenographically 2 brothers and 2 sisters of different families with the syndrome. Case Histories Case I: K. M., an 11-year-old white male, was admitted for surgical correction of middle ear deafness due to congenital malformations typical of the Treacher Collins syndrome. An anti-mongoloid slant of the eyes, depressed cheeks, small jaw, and auricular defects were noted at birth. A cleft palate had been corrected in infancy. Deafness was noted when the child, though of normal intelligence, had difficulty in school. Roentgen examination showed the bony calvarium to be normal (Fig. 1). The apparent enlargement of the cranial vault was due to the comparative smallness of the facial bones and mandible. The mandible was small with the greatest deficiency in the rami. The angle was slightly more obtuse than normal. The maxillae were hypoplastic, with incomplete zygomatic arches. The sella turcica was of normal size. The mastoid bones were not pneumatized, and the tips were hypoplastic. There was also sclerosis of the middle and inner ear, with poor delineation of their structures. Bilateral operative defects were present in the tympanic antra. Surgical exploration of the ear through an endaural incision was undertaken. The mastoid bone was sclerotic without pneumatization. The malformed incus and malleus were fused. The stapes and oval window were absent. Case II: M. M., the 9-year-old brother of K. M. (Case I), was admitted for surgical correction of total deafness which was present at birth. Except for those 2 brothers, no members of the family were known to have congenital anomalies associated with mandibulofacial dysostosis. The clinical findings were similar in the 2 cases. A cleft palate repair and cosmetic reconstruction of the malformed auricles were performed in infancy. The testes were undescended.