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History (1)
j This 4 y/o female is a victim of Treacher-
Collins syndrome. j Multiple facial anormaly including hypoplastic ears, anti-Mongoiian eyes, mandibular facial dysosteosis , micrognathia, and choanal atresia were noted at birth.
History (2)
j Due to dyspnea and poor feeding, the pt
was send to pediatric department of NTUH. j Endo-trachea tube intubated for pneumonia was done at that time. j Because of extubation difficulty, tracheostomy was performed on 87-11-28.
History (3)
j Distraction of mandible has performed
twice on 91-4-26 and 91-11-29. j This time, for the purpose of remove tracheostomy, choanal plasty and stenting were arranged on92-4-15.
History (4)
j Past history:
1. Treacher-Collins syndrome with
a. micrognathia s/p distraction twice. b. bil. microtia with hearing aid. c. PFO and PDA d. bil. Choanal atresia s/p tracheostomy. 2. Family history: denied.
and jawbone are underdeveloped. j Dr. Treacher Collins, a British ophthalmologist, was the first one who described the syndrome in 1900.
reviewed the essential components of the condition, used the term mandibulofacial dysostosis to describe the clinical features. j Treacher Collins-Franceschetti syndrome 1 (TCOF1) was the other named of the syndrome.
syndrome develops: 1. Develop as a new mutation. 2. Inheriting it from one of the parents. j The incidence of the syndrome is about 1 : 10000~1 : 50000
disorder. j The gene mutated in this syndrome was mapped at 5q32-33 initially. j Two apparently balanced translocations, t(6;16)(p21.31;p13.11) and t(5;13)(q11;p11), and two interstitial deletions, del(4)(p15.32;p14) and del (3)(p23;p24.12)
symmetrical, and the non-penetrance is rare. j But due to the expression of the gene is extremely variable, the diagnosis and subsequent genetic counselling may be very difficult.
syndrome: a. 40% of cases have a previous family history. b. cranio-facial radiographs, particularly the occipito-mental view. c. chromosome and gene exam.
problems: Small or undeveloped jaw Cleft palate and choanal atresia Tongue drop Pharyngeal hypoplasia
infections due to congestion and swelling of the airway. j Sleep apnea affect the childs mental development. j Speech therapy was needed.
safe airway : 1. intubation with laryngoscope 2. tracheostomy 3. use augustine stylet 4. translaryngeal guided intubation
craniofacial team. Children with craniofacial problems often have problems associated with the airways that create breathing difficulties. It is essential that this doctor be well trained in pediatric anesthesiology, but it is just as important that he/she have substantial experience in dealing with these special children. The pediatric anesthesiologists amount of experience with craniofacial problems perhaps has the greatest effect on the overall safety of the surgery.