Deafness associated with bilateral facial diplegia, ptosis and hypermobile joints--A new autosomal recessive condition?
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.
Reardon
William
W
National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland. willie.reardon@olhsc.ie
McGinn
Mairead
M
King
Mary D
MD
Earley
Michael
M
D000293:Adolescent; D001763:Blepharoptosis / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics / Q000503:physiopathology*; D005158:Facial Paralysis / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007593:Joint Instability / Q000235:genetics / Q000503:physiopathology*; D008297:Male