DYSOSTOSIS MANDIBULOFACIALIS

ESPECIALLY IN RELATION TO ROENTOGENOLOGICAL FINDINGS AND FACIAL DEVELOPMENT

抄録

A 6-year-old Japanese female with the Trea-cher-Collins'syndrome is presented.This case is "complete"according to the classification of Fra-nceschetti.To the best of our knowledge, 12 cases with this syndrome have been reported in our co-untry, while according to Stovin, 63 cases have done in Europe until 1960.
Case;This patient was first seen because of congenital malformation of the left auricle and stenosis of the external auditory meatus associating with ophthalmologic abnormalities, such as antim-ongoloid slant, hyperterolism and ectropium of the lateral part of the lower lids.Bilateral hearing loss(75db lef, 65db right)were measured.Bone con-duction was normal.Vestibular function, vision, visual field and the fundi oculi were all normal.The patient's IQ(Tanaka Binet)was69.The m-ain radiological abnormalities are the hypo-plastic mandible and zygomatic arches with the smallness of the facial bones.Abnormal shape of the sella turcica, sharp slope of the base of the sku11, and impressio digitale were also observed.
A left tympanoplasty using postauricular skin for the tympanoplastic procedure and creation of the unilateral external auditory meatus were perf-ormed.At the operatio, the mastoid bone was not pneumatized and the ear drum, ossic1es, chorda tympani and round window were not noticed in the small tympanic cavity.However, the runin the small tympanic cavity.However, the runin of the semicircular canal and the facial nerve were observed.Satisfactory gain in hearing was not obtained after the opeation.The measurement of each part of the face in this case revealed the facial characteristics of the fetus due to earlier developmental disorders compared with normal facial development.