A neuropsychiatric disorder associated with dense calcification of the external ears and distal muscle wasting: 'Primrose syndrome'

N. M. Lindor, A. D. Hoffman, D. A. Primrose

Research output: Contribution to journalArticle

11 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)27-34
Number of pages8
JournalClinical Dysmorphology
Volume5
Issue number1
DOIs
StatePublished - 1996

Keywords

  • Auricle calcification
  • Calcified pinnae

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

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