Xz. Liu et al., WAARDENBURG SYNDROME TYPE-II - PHENOTYPIC FINDINGS AND DIAGNOSTIC-CRITERIA, American journal of medical genetics, 55(1), 1995, pp. 95-100
The Waardenburg syndrome (WS) consists of at least two distinct autoso
mal dominant hereditary disorders, WS Type I has been mapped to the di
stal part of chromosome 2q and the gene identified as PAX3, Other gene
(s) are responsible for WS Type II. Mapping WS Type II requires accura
te diagnosis within affected families. To establish diagnostic criteri
a for WS Type II, 81 individuals from 21 families with Type II WS were
personally studied, and compared with 60 personally studied patients
from 8 families with Type I and 253 cases of WS (Type I or II) from th
e literature. Sensorineural hearing loss (77%) and heterochromia iridu
m (47%) were the two most important diagnostic indicators for WS Type
II. Both were more common in Type II than in Type I, Other clinical ma
nifestations, such as white forelock and skin patches, were more frequ
ent in Type I, We estimate the frequency of phenotypic traits and prop
ose diagnostic criteria for WS Type II, In practice, a diagnosis of WS
Type II can be made with confidence given a family history of congeni
tal hearing loss and pigmentary disorders, where individuals have been
accurately measured for ocular distances to exclude dystopia canthoru
m. (C) 1995 Wiley-Liss, Inc.