Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations.

doi:10.1002/ajmg.1320450505

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Article

Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations.

American journal of medical genetics - 1 Mar 1993

Hartsfield J K, Hall B D, Grix A W, Kousseff B G, Salazar J F, Haufe S M

Abstract excerpt

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...

Topics

Child
Child, Preschool
Developmental Disabilities
Face
Female
Hearing Loss, Sensorineural
Humans
Male
Pedigree
Phenotype
Syndrome
Tooth Loss

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