The Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis or Franceschetti-Zwahlen-Klein syndrome. (TCS) is related to atypical differentiation of the first and second pharyngeal arches, taking place during fetal development. Prevalence this approximately 1 in 50,000 live births it affects both genders equally. This article describes clinical radiographic features TCS who ha...

The autosomal dominant hereditary Treacher Collins syndrome manifests itself phenotypically in dysmorphogenesis of particularly the first, but also the second branchial arch system. Consequently, 50% of patients with Treacher Collins syndrome have a congenital, generally pure conductive hearing loss resulting from a major or minor ear anomaly. The outcome of surgery to improve patients' hearing...

a b c Dr. Girish Gopal , Dr. Divya Durga , Dr. S. Prashanth Senior Resident, Department of Pediatrics, Mysore Medical College and Research Institute, Mysore -570001, Karnataka. Post graduate student, Department of Pediatrics, Mysore Medical College and Research Institute, Mysore -570001, Karnataka. Assistant Professor, Department of Pediatrics, Mysore Medical College and Research Institute, Mys...

TreacherCollins Syndrome (TCS) is a rare autosomal dominant disorder of craniofacial morphogenesis. The frequency of TCS is 1 in 50,000 live births. Approximately half of cases arise as a result of sporadic mutation; the rest are familial. TCS is caused by a mutation in a TCOFI gene on chromosomes 5q31.3-32. The severely affected persons show classic physical characteristics and mildly affected...

Treacher Collins syndrome (Mandibulofacial dysostosis) is characterized by deafness, hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of the auricle. Hypoplasia of the facial bones may be the first indicator of the disorder. We present a case report of Treacher Collins syndrome with their ...

19 T reacher Collins syndrome is an autosomal dominant genetic disorder and affects mainly the head and face. The incidence is estimated to range from 1 in 40 000 to in 70 000 live births. The patients with TCS have usually characteristic bilateral facial anomalies (1). This article reports a case of Treacher Collins syndrome with the presence of genital anomalies and foot abnormality that has ...

OBJECTIVE The aim of this study was to assess the main ear malformations, hearing loss and auditory rehabilitation in children with Treacher Collins syndrome. METHODS We performed a retrospective study of 9 children with Treacher Collins syndrome treated in a central hospital between January 2003 and January 2013. RESULTS This study showed a high incidence of malformations of the outer and ...

Treacher Collins Syndrome--or mandibulofacial dysostosis--is a rare condition that presents several craniofacial deformities of different levels. This is a congenital malformation involving the first and second branchial arches. Incidence is estimated to range between 1-40,000 to 1-70,000 of live births. The disorder is characterized by abnormalities of the auricular pinna, hypoplasia of facial...