下頷面骨成骨不全症（Treacher Collins症侯群）―病例報告

Abstract

Mandibulofacial dysostosis (Treacher Collins syndrome) is a rare congenital anomaly. A case of 20 months boy, with hypoplasia of malar and mandible bone, malformation of the both external ears, macrostomia, abnormal dentition with malocclusion, atypical tongue-shaped processes of the hairline toward the cheeks, antimongoloid obliquity of the palpebral fissures, notching deformity of the lateral portion of the lower eyelids and absence of eyelashes in the medial third of the lower eyelid was dignosed as Mandibulofacial dysostosis. The entire syndrome is due to the malformation of both the First and Second Branchial Arches in fetus. The hereditary mode is irregular dominant mode of inheritance and reveals great variability in penetrance and expressivity. Ear and eyelid reconstruction and augmentation of the malar region during childhood, corrective rhinoplasty and chin advancement deferred until adolescence is the principle of treatment. As to this case, because of abnormal relative anatomical position of malar, palate and trachea, general anesthesia with endotracheal intubation for reconstructive surgery was failed after trial. The reconstructive surgery will be performed till the general anesthesia can be done.