Deafness associated with bilateral facial diplegia, ptosis and hypermobile joints—A new autosomal recessive condition? | Zendy

Reardon William | Zendy; McGinn Mairead | Zendy; King Mary D. | Zendy; Earley Michael | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Premium

Deafness associated with bilateral facial diplegia, ptosis and hypermobile joints—A new autosomal recessive condition?

Author(s) -

Reardon William,

McGinn Mairead,

King Mary D.,

Earley Michael

Publication year - 2003

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.20278

Subject(s) - ptosis , medicine , spastic diplegia , diplegia , sister , audiology , ophthalmology , physical medicine and rehabilitation , cerebral palsy , sociology , anthropology

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.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here

Accelerating Research