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Volume 8 Issue 9 (September, 2020)
Case Reports
Treacher Collins Syndrome - Case Report | |
Shruthi M, Raghavendra Kini, Vathsala Naik, Pooja Naik | |
Treacher collins syndrome or mandibulofacial dysostosis is an autosomal dominant disorder. It is described by craniofacial development with variable phenotype expressivity. The abnormalities are derived from the first and second branchial arches. The important features are antimongoloid slanting of the palpebral fissures, depressed zygomatic bone, hypoplasia of the mandible, malformations of the auricular pinna, lower eyelid coloboma, conductive hearing loss, cleft palate. We report a case of 16 years old female with classic clinical features of this syndrome. The causes, clinical manifestations, radiographic features, differential diagnosis, and management with multidisciplinary intervention have been emphasized in the present case report. Keywords -Treacher collins syndrome, mandibulofacial dystosis, autosomal dominant, hypoplasia |
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