A case report of Treacher Collins syndrome.
نویسندگان
چکیده
生下時,医 師に よ り口蓋裂を指摘されてい る.生 後1週 間 目ころ,体 重増加が不 良なため経 静脈栄養を行 ってい たが,哺 乳 困難を きた してい るため生後4週 間 目ころ, 本学小児科へ入院 し経 口栄養に経 鼻 カテーテル栄養を併 用 して体重 のチェッ クを行 い,2週 間ほどで体重増 加が 良好 となったため退院 し,カ テーテル交換 の目的で約1 年間外来通院 していた.な お小児科入院時にTreacher Collins Syndromeと 診断 されている.当 科へは哺乳障 害の改善のため 口蓋形成手術を希望 し来院 した. 現 症: 全身所見:身 長82.0cm,体 重10.8kgで 体格は標準 位2)の 下 限に位置 し,や せ型 でやや栄養不 良の状態であ る.頭 部以外 の体幹,四 肢 には奇形等の異常 は 認 め な い. 顔貌所見:顔 貌は左右対称 であ るが,い わ ゆ るbird faceを 呈 し両眼裂外側下方へ の傾斜,頬 骨,下 顎骨の発 東京女子医科 大学 口腔外科 学教室(主 任:河 西一秀 教授) Department of Oral Surgery, Tokyo Women's Medical College (Chief: Isshu Kawanishi) 受付 日:昭 和53年6月6日
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 کاملTreacher Collins Syndrome: A Case Report and a Brief Review on Diagnostic Aids
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 ...
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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 کاملTreacher Collins syndrome: a case report.
Treacher Collins syndrome is a rare autosomal dominant disorder of craniofacial development. The fully expressed phenotype exhibits characteristic dysmorphic features involving the face, eyes, mandible and ears. We report a case of a 17-year-old woman presenting with the typical orofacial implications of this syndrome.
متن کاملMandibulofacial dysostosis (Treacher Collins syndrome): a case report.
Mandibulofacial dysostosis, also known as Treacher Collins syndrome, is a rare congenital anomaly that must be identified in infancy to prevent irrevocable developmental impairment. Information is sparse in the current medical literature concerning this rare syndrome. This article reports a case of Treacher Collins syndrome with the presence of a scarring alopecia and acne keloidalis nuchae, wh...
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...
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عنوان ژورنال:
- Kyushu journal of medical science
دوره 12 شماره
صفحات -
تاریخ انتشار 1961