Hutchinson J C, Caldarelli D D, Valvassori G E, Pruzansky S, Parris P J
Trans Sect Otolaryngol Am Acad Ophthalmol Otolaryngol. 1977 May-Jun;84(3 Pt 2):ORL520-8.
Sixteen patients (32 ears) with diagnoses of mandibulofacial dysostosis were reviewed. The characteristic otologic manifestations of the syndrome were delineated, found to be bilateral, and consist of the following: 1. Mild symmetric deformity of the auricle (grade 1 microtia). 2. Agenesis or hypoplastic development of the mastoid and mastoid antrum. 3. Absence of the external auditory canal. 4. Marked narrowing or agenesis of the middle ear cleft. 5. Agenesis or severe malformation of the malleus and incus. When present, the malleus and incus are most often rudimentary, fused to form a conglomerate mass, and ankylosed to either the atretic plate, epitympanum, or both. 6. Stapedial malformations which usually consist of a deformed suprastructure. 7. Frequently the tegmen assumes a more inferior (low lying) position than normal. 8. Occasionally, the facial nerve pursues an abnormal course and is located more anteriorly than would be expected. 9. A normal inner ear. 10. Normal bone conduction with a marked (greater than 50 dB) conductive hearing loss. 11. Marked disparity between the degree of auricular deformity (mild; grade 1 microtia) and the degree of deformity of the remaining first and second branchial arch derivatives that constitute the external and middle ears (severe).
对16例诊断为下颌面骨发育不全的患者（32耳）进行了回顾性研究。明确了该综合征的特征性耳部表现，发现为双侧性，包括以下几点：1. 耳廓轻度对称性畸形（1级小耳畸形）。2. 乳突和乳突气房发育不全或发育不良。3. 外耳道缺如。4. 中耳裂明显狭窄或缺如。5. 锤骨和砧骨缺如或严重畸形。若存在锤骨和砧骨，通常发育不全，融合形成一团块，并与闭锁板、上鼓室或两者发生骨性粘连。6. 镫骨畸形，通常表现为上部结构变形。7. 通常，鼓室盖的位置比正常情况更低（位置偏下）。8. 偶尔，面神经走行异常，位置比预期更靠前。9. 内耳正常。10. 骨导正常，但存在明显的（大于50 dB）传导性听力损失。11. 耳廓畸形程度（轻度；1级小耳畸形）与构成外耳和中耳的其余第一和第二鳃弓衍生物的畸形程度（严重）之间存在明显差异。
