Branchio-Oculo-Facial Syndrome

《英文msh詞典》Branchio-Oculo-Facial Syndrome
[同義詞] Branchio-Oculo-Facial Syndrome
[主題詞] Branchio-Oto-Renal Syndrome
[中文釋義] 鰓眼面綜合征
[英文釋義] An autosomal dominant disorder manifested by various combinations of preauricular pits,branchial fistulae or cysts,lacrimal duct stenosis,hearing loss,structural defects of the outer,middle,or inner ear,and renal dysplasia. Associated defects include asthenic habitus,long narrow facies,constricted palate,deep overbite,and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases,2d ed)