- 期刊
遺傳性顱顏畸形Crouzon Syndrome－二例報告
Crouzon Syndrome - Report of Two Cases
摘要
Crouzon syndrome是一種顱顏骨發育不良的遺傳性疾病，遺傳方式為體染色體顯性遺傳，30%的病患由於外耳道狹窄或聽小骨鏈異常而有傳導性聽力障礙，其臨床特徵有4點：1）顱骨縫合線（cranial suture）提早癒合導致顱骨縫合線不明顯，並且顱骨發育受到限制，顱骨呈尖頭畸形（oxycephaly）；2）顏面骨發育不良，上頜竇較小，顏面中央塌陷，鼻中隔彎曲；3）眼眶較淺導致眼球向外突出；4）顳頜關節發育不良導致下頜骨向前突出。本文報告一例Crouzon syndrome之兄弟兩人，皆因為鼻塞及聽力障礙到醫院求診，理學檢查發現兄弟兩人皆有鼻中隔彎曲及外耳道狹窄，並且合併眼球突出、下唇突出、顏面中央塌陷、牙齒排列參差不齊、顎裂等多重畸形，純音聽力檢查皆有傳導性聽力障礙，放射線檢查皆發現顱骨縫合線不明顯，顱骨尖頭畸形，顏面骨發育不良，上頜竇較小，綜合以上徵兆診斷為Crouzon syndrome，安排弟弟施行鼻中隔矯正手術，哥哥施行雙側外耳道成型術後，弟弟鼻塞明顯改善，哥哥聽力障礙無明顯改善。兄弟兩人因為輕度智障，在施行純音聽力檢查之過程中，不能充分合作，故發生不可避免之人為誤差，基於科學求真的精神，作者仍以原始聽力圖發表。
並列摘要
Crouzon syndrome is an inheritable disease of craniofacial bone hypoplasia. The mode of inheritance is autosomal dominance. About 30% of patients have conductive hearing impairment caused by external auditory canal stenosis, or ossicle chain disorder. There are four distinguishing clinical features of the disease: 1) premature development ofcra-nial suture resulting in (Define “obscure suture”. What is the difference between a prema-turely developed suture and an obscure suture? You might just want to delete the words “resulting in obscure cranial suture” from this sentence. One reason to consider this is that the words “cranial suture” are redundantly repeated within the sentence, that is you should be able to rewrite without repeating these words. I am having trouble giving you an example rewrite of this without clearer explanation of your definition of obscurity.) obscure suture delineation? As well as limited cranial development so that the skull shape is oxycepharic 2) facial bone hypoplasia, diminished maxillary sinus, mid facial concave-ity, and severe deviation of the nasal septum 3) shallow orbital cavity resulting in protru-sion of the eyeballs 4) temporal mandibular joint malformation resulting in protrusion of the mandible. (Note that age at admission should be give in the Abstract) This paper reports the cases of two brothers, aged? And?, With Crouzon syndrome. They visited our hospital because of chronic symptoms of? nasal stuffiness and hearing impairment. Physi-cal examination revealed deviation of the nasal septum and external auditory canal steno-sis in both patients. Other deformities such as, ocular proptosis, lower lip protrusion, midface concavity, irregular arrangement of teeth, and cleft palate, were also noted. Pure tone audiometry revealed that the both brothers had conductive hearing impairment. Roentgenological examination showed no obvious cranial suture, oxycephaly, facial bone hypoplasia and diminished maxillary sinus. Crouzon syndrome was diagnosed based on the above symptom and feature. Treatment with septoplasty and canaloplasty, resulted in marked improvement in nasal stuffiness but no change in hearing impairment was noted. (Informing is the task at hand-not wishing. This last sentence is too vague and should give a spefic summary of how early diagnosis and treatment might be facilitated in such patients. Rewrite.) Early diagnosis and treatment of Crouzon syndrome may be facilitated by (for example) greater awareness of what (Or for xample, “prompt use of what” tech-nique, etc.? Rewrite this conclusion to be more specific.