Article
[Audiological phenotypes of Antlet-Bixler syndrome: a case report and literatures review].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Mar 2023
Zhao Minghui, Zhang Jiao, Wang Qiuju
Abstract excerpt
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...
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