Treacher Collins Syndrome: A Case Report and a Brief Review on Diagnostic Aids
نویسندگان
چکیده
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 extraoral findings, intraoral findings and their treatment plan. We have also included the various etiological factors, clinical diagnostic aids, and multidisciplinary team approach.
منابع مشابه
Treacher Collins Syndrome
Treacher Collins syndrome (TCS) is a genetic disease that alters the development of bones and other tissues in the face, and presents variable expressivity. At least three genes TCOF1, POLR1D, and POLR1C were recognized to be at the origin of this syndrome which may be inherited through either an autosomal dominant or autosomal recessive pattern. TCS changes can be divided into otological, opht...
متن کاملA Case Report: Nager Acrofacial Dysostosis
Introduction: Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inherita...
متن کاملResults of the implantation of bone-anchored hearing aids in patients with treacher-collins syndrome
INTRODUCTION Treacher-Collins syndrome is characterized by craniofacial malformations, narrowing of the external auditory canal (EAC), and, in 30% of cases, agenesis of the canal and ossicular chain defects. The use of hearing aids (HA) is not possible in cases in which agenesis or stenosis of the EAC accompanies conductive deafness. In contrast, bone conduction implants such as the Bone Ancho...
متن کاملUnusual diagnosis of Von Hippel Lindau syndrome on PET/CT - Case report and brief review of literature
We report an unusual case of a young male with cerebellar hemangioblastoma treated previously for medullary carcinoma of thyroid, whose PET/CT scans revealed a constellation of findings that suggested the rare Von Hippel Lindau syndrome. The diagnosis was clinched by confirming the findings on whole body contrast enhanced computed tomography (CECT) and contrast enha...
متن کاملTreacher Collins Syndrome with choanal atresia: a case report and review of disease features.
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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 4 شماره
صفحات -
تاریخ انتشار 2011