A Case of Unilateral Mandibulo-Facial Dysostosis Associated with Complicated Malformation of the Ear

Abstract

A case of a male child aged 6 years, who had an unilateral, incomplete mandibulo-facial dysostosis associated with rare deformities of the ear, was reported. There was no significant family history concerning the congenital abnormalities. He was born at full term after what appeared to have been an uneventfull pregnancy. It was considered as one of causal factors that the early rupture of the faetal membran had made his birth very difficulf. His mental and bodily development was assured to be normal by the pediatric examination. On the otological and radiographic examination, we found that he had very complicated and various deformities on the left side of the head, face and neck.Significant findings among these deformities are listed as follows.1. A fissure, having been operated several days after his birth, extending laterally from the left angle of the mouth.2. The grossly deformed left auricle, microcia, lop ear and auricular appendixes, displaced to caudo-ventrally at the angle of the lower jaw. There was an opening of soft external auditory meatus, covered with the deformed auricle, directed latero-cranially and ended at the ossal part.3. Although asymmetry of palpebllar fissure was recognized, there were no manifest eye signs relating to this syndrom.4. The atrophia of the left zygomatic arc and branch of the mandibule, as one of representative signs of dysostosis mandibulo-facialis, was marke also in this case.5. Paralysis of the left facial nerve caused by the lesion in the facial canal.6. On the radiographic examination of the left temporal bone, the poorly developed mastoid cells, antrum and tympanic cavity were recognized. Moreover, dislocation of the left pyramis, deformity of labyrinth capsule, and a large notch at the internal porus of the acoustic nerve, were demonstrated.7. About an average of 30db hearing loss of bone conduction of the left ear was revealed by audiometrtic examination. Audiogram of the right ear was almost normal pattern.Based on the radiographic findings of the left pyramis, we assumed the perceptive type hearing loss of the left ear to the conginital damage of the accoustic nerve.A reviw of literatures was done, and the geneses of these congenital abnormalities were discussed.