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- Publisher
- Wiley
- Copyright
- Copyright © 1995 Wiley Subscription Services, Inc., A Wiley Company
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- DOI
- 10.1002/ajmg.1320590223
- pmid
- 8588593
- Publisher site
- See Article on Publisher Site
Abstract
We describe a large family with congenital microtia, auditory meatal atresia and conductive deafness. The pedigree suggests autosomal dominant inheritance with variable expression and low penetrance. The literature is also reviewed to describe the inheritance pattern and clinical spectrum noted in this rare syndrome so far. The family is unique because the set of otologic anomalies in five generations was associated with renal cysts in one of the affected members, suggesting that this oto‐renal (OR) syndrome may represent a variable expression of the branchio‐oto‐renal (BOR) syndrome. However, the probability is that this dominant malformation syndrome is a distinct entity. © 1995 Wiley‐Liss, Inc.
Journal
American Journal of Medical Genetics Part A – Wiley
Published: Jun 6, 1995
Keywords: ; ; ;