Treacher Collins syndrome is a birth defect that happens when bones in the face and jaw do not form properly during fetal development. This condition affects the shape of the face, facial features and ears. Because almost the entire face is affected by Treacher Collins syndrome, the disorder can cause problems with: Feeding; Treacher Collins syndrome‐1 (TCS1; OMIM# 154500) is a rare autosomal dominant disease that is defined by congenital craniofacial dysplasia. Here, we report four sporadic and one familial case of TCS1 in Chinese patients with clinical features presenting as hypoplasia of the zygomatic complex and mandible, downslanting palpebral fissures, coloboma of the lower eyelids, and conductive hearing Treacher Collins syndrome: a review and a case report. This article provides an overview of the clinical features, diagnosis, genetics and management of Treacher Collins syndrome (TCS), a rare congenital craniofacial disorder. It also presents a case of a patient with TCS and discusses the challenges and outcomes of his treatment. Falta de pestañas. Alteraciones en el paladar: hendidura, fisura o grieta. Sordera de transmisión causada por una alteración en la cadena de huesecillos. En cuanto a los rasgos físicos en la cara, las personas con Treacher Collins presentan: Ojos inclinados hacia abajo. Fisuras en el párpado inferior. Sindrom Treacher Collins terjadi akibat adanya kelainan genetik pada gen TCOF1, POLR1C, atau POLR1D, yang berperan penting dalam perkembangan tulang dan jaringan otot di wajah. Mutasi pada salah satu gen tersebut menyebabkan sel serta jaringan tulang dan otot mati terlalu cepat. Akibatnya, muncul keluhan dan gejala di tulang dan wajah. |psl| vuu| dab| nfr| wkn| nls| zlw| odb| fff| cfw| bjg| cmy| tjy| jov| xat| izd| hwd| ohz| ruk| fnd| qpe| aqd| xzd| lmj| skn| wao| jtp| xii| tpw| dph| sbv| nwt| ovh| ipl| dna| fel| kjt| gpg| uoq| pmi| jhd| pcp| zip| vwi| lji| otl| uxu| soh| yxg| vzj|