眼耳脊椎发育不良

Oculo-auriculo-vertebral spectrum

目的描述眼耳脊椎发育不良的各种复杂的临床表现,帮助临床医师对该综合征的认识。方法小耳畸形合并面部其他多处畸形患者3例,分别对其进行相关临床检查,并对具有耳科手术适应证者进行手术治疗。结果 3例均有眼耳脊椎发育不良的特征性临床表现——外耳畸形、眼部畸形及面部畸形,其他畸形包括牙、内耳、小指等畸形。1例外耳道狭窄并发中耳炎行外耳道鼓室成形术,1例耳廓畸形者行耳廓再造术,1例因年龄因素暂未行手术治疗。结论眼耳脊椎发育不良临床表现复杂,但只要抓住其特征性表现,即能作出诊断。

OBJECTIVE To promote the recognition of oculo-auriculo-vertebral spectrum by means of describing the complicated clinical manifestation of this syndrome. METHODS Correlate clinical examinations were undertook on three microtia patients associated with some deformities of other body parts,and otology operations were carried out if the patients had operation indication. RESULTS All of the three patients had characteristic clinical manifestation of oculoauriculo-vertebral spectrum,besides,they had other deformities like tooth deformity,inner ear deformity and little finger deformity. One patient accepted tympanoplasty because of external auditory canal stenosis complicated by otitis media. One patient accepted auricular plastic surgery because of microtia and poor development of middle ear. One patient had no surgical therapy because of age factor. CONCLUSION Although the clinical manifestation of oculo-auriculo-vertebral spectrum is complicated,you can diagnose it according to the characteristic clinical manifestation of this syndrome.