Radiography of Chitayat syndrome in an infant male

Abstract

Chitayat syndrome is a rare genetic syndrome characterised by bilateral hyperphalangism, bronchomalacia, hallux valgus, and other facial dysmorphism including large anterior fontanelle, hypertelorism, and anteverted nostrils. Since the initial discovery, only few cases of Chitayat syndrome have been reported in the literature. Previous literatures showed the genetic link between 5 case reports, showing that a unique link of recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene may be the contributory genetic cause of Chitayat syndrome. However, it still remains as an unfamiliar genetic syndrome. In this case report, we aim to discuss a rare case of Chitayat syndrome and demonstrate the radiological findings associated. Keywords: Chitayat, Genetic, Syndrome, ERF, Gene, Bronchomalacia