Treacher Collins syndrome: A case report

Abstract

Introduction: Treacher Collins syndrome (TCS) is a congenital craniofacial morphogenesis disorder of autosomal dominant inheritance, which symptoms vary greatly ranging from almost unnoticeable to severe. The most common clinical features include hypoplasia of the malar bones and the lower jaw, antimongoloid slanting of palpebral fissures, and ear abnormalities. Imaging, especially computed tomography (CT), enables both a quantitative and qualitative analysis of the malformations, allowing the diagnosis and the planning of surgical interventions. Case Report: We report a case of a fully expressed Treacher Collins syndrome in a 3-month-old male child brought by his mother for dental malocclusion causing difficulties in breastfeeding. The examination revealed hypertelorism with antimongoloid slanting of palpebral fissures, hypoplasia of the malar and zygomatic bones, the mandible, and a microtia with no external auditory canal identified. The CT of the facial area revealed bilateral and symmetrical hypoplasia of the zygomatic bones, the mandible, the maxillary bones, and the temporal bone with agenesis of the bony external auditory canals. Conclusion: Treacher Collins syndrome is a malformative craniofacial congenital disorder that can be well managed if the diagnosis is done early.