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.