Abstract
Treacher Collins Syndrome, which refers to the developmental anomalies of the first and second branchial arches as a pathogenesis, is very rare disease. This syndrome prominently exhibits congenital facial anomalies. Although its etiology is not known, the hereditary factors have clearly been demonstrated in the literature. This syndrome is most likely transmitted in the autosomal dominant mode of inheritance.
This is a report of a 7 year-old girl with the Treacher Collins Syndrome, whose older sister, mother and maternal grandfather have also revealed this syndrome.
The patient was found to exhibit all of the clinical stigmata in the syndrome and she appeared to be a complete type of this disease according to the Franceschetti and Klein classification. There were indications that her older sister and mother were clinically found to have almost all of the clinical features of this syndrome as well and they were also classified as a complete type. The maternal grandfather seemed to reveal an incomplete type of this disease.
The family which we investigated clearly demonstrated the autosomal dominant transmission of this disease based on the study of their pedigree. We have traced and examined the four affected members of this family through three generations and their phenotype seemed to be worsening progressively generation after generation.
The clinical and dental findings of this family and a veriew of literature is reported.
