Familial treacher collins syndrome – report of two rare cases with review of literature

Rashmi Agarwal, Amit Mhapuskar, Manjula Hebbale, Meenal Tepan and Ayushee

Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development affecting the structures derived from the first and second branchial arches with variable phenotypic expression. It presents with a characteristic facial appearance which is easily recognizable. We report a case with a review of a Familial Treacher Collin Syndrome affecting father and son showing all the characteristic features of the syndrome.


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