Lindor N M, Hoffman A D, Primrose D A
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA.
Clin Dysmorphol. 1996 Jan;5(1):27-34. doi: 10.1097/00019605-199601000-00004.
We report a 43-year-old man with a slowly progressive neurological disorder associated with impaired intellect, general stiffening of the spine and joints, craniofacial dysmorphism, hearing loss, and massive calcification of the external ears. Extensive laboratory investigations were nondiagnostic. This patient appears to have the same disorder reported previously in two individual case reports, supporting the idea that this phenotype may represent a recognizable new clinical entity. A review of literature pertaining to calcification of the external ears is presented.
我们报告了一名43岁男性，患有一种缓慢进展的神经系统疾病，伴有智力受损、脊柱和关节普遍僵硬、颅面部畸形、听力丧失以及外耳大量钙化。广泛的实验室检查未能明确诊断。该患者似乎患有先前两篇个案报告中所报道的相同疾病，这支持了该表型可能代表一种可识别的新临床实体的观点。本文还对有关外耳钙化的文献进行了综述。
