TY - JOUR
T1 - Beals syndrome with middle and inner ear dysplasia and encephalocele
T2 - A case report and review of imaging findings
AU - Weidman, Elizabeth K.
AU - Morgenstern, Peter F.
AU - Phillips, C. Douglas
AU - Greenfield, Jeffrey P.
AU - Schwartz, Theodore H.
AU - Heier, Linda A.
N1 - Publisher Copyright:
© 2018
PY - 2019/2
Y1 - 2019/2
N2 - 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.
AB - 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.
KW - Beals syndrome
KW - Beals-Hecht syndrome
KW - Congenital contractural arachnodactyly
UR - http://www.scopus.com/inward/record.url?scp=85056651227&partnerID=8YFLogxK
U2 - 10.1016/j.ijporl.2018.11.009
DO - 10.1016/j.ijporl.2018.11.009
M3 - Article
C2 - 30579083
AN - SCOPUS:85056651227
VL - 117
SP - 26
EP - 29
JO - International Journal of Pediatric Otorhinolaryngology
JF - International Journal of Pediatric Otorhinolaryngology
SN - 0165-5876
ER -