Title | Beals syndrome with middle and inner ear dysplasia and encephalocele: A case report and review of imaging findings. |
Publication Type | Journal Article |
Year of Publication | 2019 |
Authors | Weidman EK, Morgenstern PF, C Phillips D, Greenfield JP, Schwartz TH, Heier LA |
Journal | Int J Pediatr Otorhinolaryngol |
Volume | 117 |
Pagination | 26-29 |
Date Published | 2019 Feb |
ISSN | 1872-8464 |
Keywords | Arachnodactyly, 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. |
DOI | 10.1016/j.ijporl.2018.11.009 |
Alternate Journal | Int J Pediatr Otorhinolaryngol |
PubMed ID | 30579083 |