Hochman M, Fee W E
Division of Otolaryngology/Head and Neck Surgery, Stanford University Medical Center, California.
Ann Otol Rhinol Laryngol. 1987 Sep-Oct;96(5):565-8. doi: 10.1177/000348948709600517.
Conradi-Hunerman syndrome, a variant of chondrodysplasia punctata, rarely presents with primary manifestations relevant to the head and neck surgeon. Usually, the disease is evidenced by malformation of the extremities, cataracts, cutaneous lesions, and an unusual facies. We have followed a child with Conradi-Hunerman syndrome for 7 years whose primary manifestation of the disease is respiratory compromise secondary to calcification of the laryngotracheobronchial tree. In addition, he has a conductive hearing loss thought to be secondary to ossicular chain fixation.
康拉迪 - 于纳曼综合征是点状软骨发育不良的一种变体，很少出现与头颈外科医生相关的主要表现。通常，该病表现为肢体畸形、白内障、皮肤病变和特殊面容。我们对一名患有康拉迪 - 于纳曼综合征的儿童进行了7年的随访，其疾病的主要表现是喉气管支气管树钙化继发的呼吸功能不全。此外，他还存在传导性听力损失，据认为是听骨链固定继发的。
