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A new autosomal recessive oto-facial syndrome with midline malformations

✍ Scribed by André Mégarbané; Eliane Chouery; Simon Rassi; Valérie Delague


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
192 KB
Volume
132A
Category
Article
ISSN
1552-4825

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Deafness associated with bilateral facia
✍ Reardon, William ;McGinn, Mairead ;King, Mary D. ;Earley, Michael 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 203 KB 👁 1 views

## 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 uniq