[Clinical features of a Chinese pedigree with Waardenburg syndrome type 2].
OBJECTIVE
To investigate detailed clinical features of a Chinese pedigree with Waardenburg syndrome type 2.


METHODS
Members of this pedigree were interviewed to identify personal or family medical histories of hearing loss, the use of aminoglycosides, and other clinical abnormalities by filling questionnaire. The audiological and other clinical evaluations of the proband and other members of this family were conducted, including pure-tone audiometry, immittance and auditory brain-stem response and ophthalmological, dermatologic, hair, temporal bone CT examinations.


RESULTS
This family is categorized as Waardenburg syndrome type 2 according to its clinical features. It's an autosomal dominant disorder with incomplete penetrance. The clinical features varied greatly among family members and characterized by sensorineural hearing loss, heterochromia irides, freckle on the face and premature gray hair. Hearing loss can be unilateral or bilateral, congenital or late onset in this family.


CONCLUSIONS
This Chinese family has some unique clinical features comparing with the international diagnostic criteria for Waardenburg syndrome. This study may provide some evidences to amend the diagnostic criteria for Waardenburg syndrome in Chinese population.
Yang
Shu-zhi
SZ
Institute of Otolaryngology, General Hospital of the People's Liberation Army, Beijing 100853, China.
Yuan
Hui-jun
HJ
Bai
Lin-na
LN
Cao
Ju-yang
JY
Xu
Ye
Y
Shen
Wei-dong
WD
Ji
Fei
F
Yang
Wei-yan
WY
D044466:Asian People; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D014849:Waardenburg Syndrome / Q000235:genetics