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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.