Journal article
Phenotypic manifestations of branchiootorenal syndrome
American journal of medical genetics, Vol.58(4), pp.365-370
09/25/1995
DOI: 10.1002/ajmg.1320580413
PMID: 8533848
Abstract
Branchiootorenal (BOR) syndrome is a variable, autosomal‐dominant disorder of the first and second embryonic branchial arches, kidneys, and urinary tract. We describe the phenotype in 45 individuals, highlighting differences and similarities reported in other studies. Characteristic temporal bone findings include cochlear hypoplasia (4/5 of normal size with only 2 turns), dilation of the vestibular aqueduct, bulbous internal auditory canals, deep posterior fossae, and acutely‐angled promontories. © 1995 Wiley‐Liss, Inc.
Details
- Title: Subtitle
- Phenotypic manifestations of branchiootorenal syndrome
- Creators
- Achih ChenMary FrancisLi NiCor W. R. J CremersWilliam J KimberlingYutaka SatoPeter D PhelpsSusan C BellmanMichael J WagnerMarcus PembreyRichard J. H Smith
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics, Vol.58(4), pp.365-370
- DOI
- 10.1002/ajmg.1320580413
- PMID
- 8533848
- NLM abbreviation
- Am J Med Genet
- ISSN
- 0148-7299
- eISSN
- 1096-8628
- Publisher
- Wiley; New York
- Number of pages
- 6
- Language
- English
- Date published
- 09/25/1995
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Radiology; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984051715102771
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