Beals syndrome with middle and inner ear dysplasia and encephalocele: A case report and review of imaging findings

Elizabeth K. Weidman, Peter F. Morgenstern, C. Douglas Phillips, Jeffrey P. Greenfield, Theodore H. Schwartz, Linda A. Heier

Research output: Contribution to journalArticlepeer-review

Abstract

A 10-year-old male with history of Beals syndrome presented with hearing loss and was found to have middle and inner ear dysplasia and left temporal encephalocele on imaging. Beals syndrome is a rare autosomal dominant connective tissue disorder caused by a mutation in the fibrillin-2 gene. Skeletal manifestations of Beals have been reported, including anomalies of the long bones, calvarium, and spine. External ear abnormalities with “crumpled ear” deformity are seen in the majority of patients. This is the first case to report imaging findings of the middle and inner ear in a patient with Beals.

Original languageEnglish
Pages (from-to)26-29
Number of pages4
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume117
DOIs
StatePublished - Feb 2019
Externally publishedYes

Keywords

  • Beals syndrome
  • Beals-Hecht syndrome
  • Congenital contractural arachnodactyly

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