✦ LIBER ✦
Deafness associated with bilateral facial diplegia, ptosis and hypermobile joints?A new autosomal recessive condition?
✍ Scribed by Reardon, William ;McGinn, Mairead ;King, Mary D. ;Earley, Michael
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 203 KB
- Volume
- 122A
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Abstract
We report the combination of sensorineural deafness with facial diplegia, ptosis and hypermobile joints. Observed in a sister and brother, comparison with other reports has failed to identify an established syndrome with this clinical profile. We propose that these siblings share a unique phenotype, representing a new autosomal recessive trait. © 2003 Wiley‐Liss, Inc.