title: Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations.
abstract: We report on 7 patients (6 M, 1 F) with Coffin-Lowry syndrome who have a sensorineural hearing deficit in addition to developmental delay and characteristic facial changes. One of the patients also had a history of premature exfoliation of primary teeth. These are previously unappreciated clinical signs that may aid in the early diagnosis of Coffin-Lowry syndrome. Early diagnosis and recognition of a hearing deficit in the patient can lead to the use of hearing aids to help the patient achieve his or her full potential. These "new" clinical manifestations expand the phenotype of Coffin-Lowry syndrome and constitute an additional indication of pleiotropy.
authors.affiliation: University of South Florida, College of Medicine, Department of Pediatrics, Tampa 33612-4799.
authors.forename: J K
authors.initials: JK
authors.lastname: Hartsfield
authors.forename: B D
authors.initials: BD
authors.lastname: Hall
authors.forename: A W
authors.initials: AW
authors.lastname: Grix
authors.forename: B G
authors.initials: BG
authors.lastname: Kousseff
authors.forename: J F
authors.initials: JF
authors.lastname: Salazar
authors.forename: S M
authors.initials: SM
authors.lastname: Haufe
mesh_terms: D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D016388:Tooth Loss / Q000175:diagnosis / Q000235:genetics*