TY - JOUR
T1 - Pleiotropy in Coffin-Lowry syndrome
T2 - Sensorineural hearing deficit and premature tooth loss as early manifestations
AU - Hartsfield, J. K.
AU - Hall, B. D.
AU - Grix, A. W.
AU - Kousseff, B. G.
AU - Salazar, J. F.
AU - Haufe, S. M.W.
PY - 1993
Y1 - 1993
N2 - 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.
AB - 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.
KW - developmental delay
KW - facial changes
KW - premature exfoliation
UR - http://www.scopus.com/inward/record.url?scp=0027475725&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0027475725&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320450505
DO - 10.1002/ajmg.1320450505
M3 - Article
C2 - 7681250
AN - SCOPUS:0027475725
SN - 0148-7299
VL - 45
SP - 552
EP - 557
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 5
ER -
