Exploring the genetic origins of Treacher Collins syndrome.

摘要

Treacher Collins syndrome (TCS) is a heritable disease characterized by craniofacial deformities such as underdevelopment of the facial bones and jaw, abnormal external ears, notching of the lower eyelid, absence of lower eyelid cilia, and preau-ricular.hair displacement. About half of the TCS patients experience conductive hearing loss which is most commonly attributed to malformation of the ossicles and hypoplasia of the middle ear cavities. Other less common abnormalities include cleft palate with or without cleft lip and unilateral or bilateral choanal stenosis or atresia (1).TCS is often regarded as an autosomal-dominant disorder due to the inheritance patterns observed in affected families.