title: A neuropsychiatric disorder associated with dense calcification of the external ears and distal muscle wasting: 'Primrose syndrome'.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA.
authors.forename: N M
authors.initials: NM
authors.lastname: Lindor
authors.forename: A D
authors.initials: AD
authors.lastname: Hoffman
authors.forename: D A
authors.initials: DA
authors.lastname: Primrose
mesh_terms: D000328:Adult; D002114:Calcinosis / Q000473:pathology*; D004427:Ear Diseases / Q000473:pathology*; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000473:pathology*; D012559:Schizophrenia / Q000473:pathology*; D013577:Syndrome