title: A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation.
abstract: Patients with syndromic craniosynostosis may have associated hearing deficits. A review of hearing loss associated with syndromic craniosynostosis as well as implications of cochlear implantation in the craniosynostosis patients is presented. In the literature, patients with Saethre-Chotzen syndrome have been shown to have conductive or mixed hearing losses. This case report describes a patient with Saethre-Chotzen syndrome caused by a mutation in the TWIST gene who exhibits a severe to profound sensorineural hearing loss.
authors.affiliation: Department of Otolaryngology at the University of Washington, Seattle, Washington 98159, USA.
authors.forename: Samson
authors.initials: S
authors.lastname: Lee
authors.forename: Marianne
authors.initials: M
authors.lastname: Seto
authors.forename: Kathy
authors.initials: K
authors.lastname: Sie
authors.forename: Michael
authors.initials: M
authors.lastname: Cunningham
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics / Q000473:pathology*; D003393:Cranial Sutures / Q000002:abnormalities; D005500:Follow-Up Studies; D005624:Frontal Bone / Q000002:abnormalities; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D009777:Occipital Bone / Q000002:abnormalities; D010294:Parietal Bone / Q000002:abnormalities; D010641:Phenotype; D014034:Toes / Q000002:abnormalities; D014057:Tomography, X-Ray Computed; D014157:Transcription Factors; D051879:Twist-Related Protein 1
chemical_list: D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D014157:Transcription Factors; D051879:Twist-Related Protein 1