[Audiological phenotypes of Antlet-Bixler syndrome: a case report and literatures review].

ABSTRACT: Antlet-Bixler syndrome is a rare congenital multiple malformation. In this report, a child with clinical features of midface hypoplasia, craniosynostosis, and skeletal deformities was diagnosed with Antlet-Bixler syndrome after whole exome sequencing demonstrated compound heterozygous mutations in POR. The audiological findings of affected children with sensorineural, conductive, mixed hearing loss are complex and variable. In this paper, its clinical audiological features and genetic etiology were discussed in combination with relevant literatures.

SUBMITTER: Zhao M 

PROVIDER: S-EPMC10320681 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature