TREACHER COLLINS SYNDROME ASSOCIATED TO BILATERAL CHOANAL ATRESIA, CASE REPORT
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چکیده
منابع مشابه
Treacher 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 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 کاملCase Report Congenital Bilateral Choanal Atresia
Congenital choanal atresia (CCA) is the developmental failure of the nasal cavity to communicate with nasopharynx. Surgical repair is recommended in the first weeks of life in bilateral cases because this is a lifethreatening situation in newborns. This is a case report of a full term, healthy newborn baby presenting with intermittent attacks of cyanosis and respiratory distress soon after birt...
متن کاملA case report of Treacher Collins syndrome.
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...
متن کاملSamjforum Case Report Penile Agenesis Associated with Treacher Collins Syndrome
Penile agenesis or aphallia is a rare congenital anomaly occurring with a frequency of 1:10 -1:30 million newborns. Fewer than 100 cases have been reported worldwide. Associated urogenital malformations and the presence of oligohydramnios with pulmonary hypoplasia determine the infant's viability. Extra-urogenital anomalies have been described in the cardiovascular, gastro-intestinal and muscul...
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ژورنال
عنوان ژورنال: International Archives of Otorhinolaryngology
سال: 2012
ISSN: 1809-9777,1809-4864
DOI: 10.7162/s1809-977720120s1po-157