Literature DB >> 17482285

Otologic findings in Antley-Bixler syndrome: a clinical and radiologic case report.

Andrew A McCall1, Claudia F Kirsch, Gail Ishiyama, Akira Ishiyama.   

Abstract

Antley-Bixler syndrome (ABS) is characterized by craniofacial dysmorphism and radiohumeral synostosis with other associated anomalies. Prior studies have commonly described the entirety of the syndrome or the genetic abnormalities underlying the syndrome, however, no study has specifically addressed the otologic findings of ABS. We present a case of ABS, specifically focusing on the otologic ramifications of the disease, and provide recommendations for approaching the otologic management of these complex patients.

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Year:  2007        PMID: 17482285     DOI: 10.1016/j.ijporl.2007.02.016

Source DB:  PubMed          Journal:  Int J Pediatr Otorhinolaryngol        ISSN: 0165-5876            Impact factor:   1.675


  2 in total

1.  Localization and proteomic characterization of cholesterol-rich membrane microdomains in the inner ear.

Authors:  Paul V Thomas; Andrew L Cheng; Candice C Colby; Liqian Liu; Chintan K Patel; Lydia Josephs; R Keith Duncan
Journal:  J Proteomics       Date:  2014-04-05       Impact factor: 4.044

2.  Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.

Authors:  Lijun Fan; Xiaoya Ren; Yanning Song; Chang Su; Junfen Fu; Chunxiu Gong
Journal:  Orphanet J Rare Dis       Date:  2019-12-30       Impact factor: 4.123

  2 in total

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