a b c Dr. Girish Gopal , Dr. Divya Durga , Dr. S. Prashanth Senior Resident, Department of Pediatrics, Mysore Medical College and Research Institute, Mysore -570001, Karnataka. Post graduate student, Department of Pediatrics, Mysore Medical College and Research Institute, Mysore -570001, Karnataka. Assistant Professor, Department of Pediatrics, Mysore Medical College and Research Institute, Mys...

TreacherCollins Syndrome (TCS) is a rare autosomal dominant disorder of craniofacial morphogenesis. The frequency of TCS is 1 in 50,000 live births. Approximately half of cases arise as a result of sporadic mutation; the rest are familial. TCS is caused by a mutation in a TCOFI gene on chromosomes 5q31.3-32. The severely affected persons show classic physical characteristics and mildly affected...

OBJECTIVE To describe a case of hearing rehabilitation with bone anchored hearing aid in a patient with Treacher Collins syndrome. CASE DESCRIPTION 3 years old patient, male, with Treacher Collins syndrome and severe complications due to the syndrome, mostly related to the upper airway and hearing. He had bilateral atresia of external auditory canals, and malformation of the pinna. The initia...

Mandibulo-facial dysostosis has been described with increasing frequency in recent years. Once known it is readily recognized and may be more common than is sometimes imagined. We describe in this article a case seen in a newlyborn infant who died at the age of 21 months and in whom careful dissections were made of the facial region. The infant (A.R., 456/1954) was admitted to the Royal Aberdee...

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...