title: Deafness associated with bilateral facial diplegia, ptosis and hypermobile joints--A new autosomal recessive condition?
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.
authors.affiliation: National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland. willie.reardon@olhsc.ie
authors.forename: William
authors.initials: W
authors.lastname: Reardon
authors.forename: Mairead
authors.initials: M
authors.lastname: McGinn
authors.forename: Mary D
authors.initials: MD
authors.lastname: King
authors.forename: Michael
authors.initials: M
authors.lastname: Earley
mesh_terms: 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