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

TitleBeals syndrome with middle and inner ear dysplasia and encephalocele: A case report and review of imaging findings.
Publication TypeJournal Article
Year of Publication2019
AuthorsWeidman EK, Morgenstern PF, C Phillips D, Greenfield JP, Schwartz TH, Heier LA
JournalInt J Pediatr Otorhinolaryngol
Volume117
Pagination26-29
Date Published2019 Feb
ISSN1872-8464
KeywordsArachnodactyly, Child, Contracture, Ear, Inner, Ear, Middle, Encephalocele, Humans, Magnetic Resonance Imaging, Male, Sphenoid Bone, Temporal Bone, Tomography, X-Ray Computed
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.

DOI10.1016/j.ijporl.2018.11.009
Alternate JournalInt J Pediatr Otorhinolaryngol
PubMed ID30579083