We describe a new case of postaxial acrofacial dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. The mode of inheritance remains uncertain.

Treacher Collins syndrome is an autosomal dominant craniofacial malformation mainly caused by mutations in the TCOF1 gene. Few cases have been observed in the Chinese population. Herein, the authors report the mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome. Genomic DNA of the patients and their ...

Treacher Collins syndrome (TCS) is an autosomal dominant genetic disorder, the phenotypic expression of which is seen in the head and neck area. The syndrome has full penetrance but variable expressivity even among family members, and recent investigation has reported gene site on chromosome 5q. TCS has a reported prevalence of 1 in 50,000 live births with about 40 percent of new occurrences re...

Treacher Collins syndrome (TCS) is a genetic disease that alters the development of bones and other tissues in the face, and presents variable expressivity. At least three genes TCOF1, POLR1D, and POLR1C were recognized to be at the origin of this syndrome which may be inherited through either an autosomal dominant or autosomal recessive pattern. TCS changes can be divided into otological, opht...

The Treacher Collins syndrome is characterized by both soft and hard tissue deficiencies. To reconstruct malar hypoplasia with both soft and hard tissues, we designed a new method using cartilage grafts, Y-V advancement flaps, and Z plasty with tissue expansion.