Tsitouridis I, Bintoudi A, Diamantopoulou A, Michaelides M
Diagnostic and Interventional Radiology, Papageorgiou General Hospital; Thessaloniki, Greece -
Neuroradiol J. 2007 Jun 30;20(3):365-72. doi: 10.1177/197140090702000321.
Treacher-Collins syndrome or mandibulofacial dysostosis is an autosomal dominant disorder of craniofacial development. In this familial syndrome there is an arrest in the development of the facial bones, manifested by a depression of the malar bones, an antimonogoloid slant of the palpebral fissures, mandibular hypoplasia with retrognathia, coloboma of the lower eyelids and deformities of the ear structures derived from the branchial arches. Frequently, there is external auditory canal atresia and deformity of the pinnae. Other uncommon anomalies include congenital heart defects and cryptorchidism. This study describes a rare case of Treacher-Collins syndrome associated with congenital cardiopathy and megacolon, with a review of the literature.
特雷彻-柯林斯综合征或下颌面骨发育不全是一种常染色体显性遗传的颅面发育障碍疾病。在这种家族性综合征中，面部骨骼发育停滞，表现为颧骨凹陷、睑裂呈反蒙古样倾斜、下颌发育不全伴下颌后缩、下眼睑缺损以及源自鳃弓的耳部结构畸形。通常存在外耳道闭锁和耳廓畸形。其他不常见的异常包括先天性心脏缺陷和隐睾症。本研究描述了一例罕见的与先天性心脏病和巨结肠相关的特雷彻-柯林斯综合征病例，并对相关文献进行了综述。
