Waardenburg syndrome type II: Phenotypic findings and diagnostic criteria

Xue Z Liu, V. E. Newton, A. P. Read

Research output: Contribution to journalArticle

123 Citations (Scopus)

Abstract

The Waardenburg syndrome (WS) consists of at least two distinct autosomal dominant hereditary disorders. WS Type I has been mapped to the distal part of chromosome 2q and the gene identified as PAX3. Other gene(s) are responsible for WS Type II. Mapping WS Type II requires accurate diagnosis within affected families. To establish diagnostic criteria 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 the literature. Sensorineural hearing loss (77%) and heterochromia iridum (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 manifestations, such as white forelock and skin patches, were more frequent in Type I. We estimate the frequency of phenotypic traits and propose diagnostic criteria for WS Type II. In practice, a diagnosis of WS Type II can be made with confidence given a family history of congenital hearing loss and pigmentary disorders, where individuals have been accurately measured for ocular distances to exclude dystopia canthorum.

Original languageEnglish
Pages (from-to)95-100
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume55
Issue number1
DOIs
StatePublished - Feb 28 1995
Externally publishedYes

Fingerprint

Waardenburg Syndrome
Sensorineural Hearing Loss
Hearing Loss
Genes
Chromosomes

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Waardenburg syndrome type II : Phenotypic findings and diagnostic criteria. / Liu, Xue Z; Newton, V. E.; Read, A. P.

In: American Journal of Medical Genetics, Vol. 55, No. 1, 28.02.1995, p. 95-100.

Research output: Contribution to journalArticle

@article{c7d65d33daf04cd6b353cb783a8808ed,
title = "Waardenburg syndrome type II: Phenotypic findings and diagnostic criteria",
abstract = "The Waardenburg syndrome (WS) consists of at least two distinct autosomal dominant hereditary disorders. WS Type I has been mapped to the distal part of chromosome 2q and the gene identified as PAX3. Other gene(s) are responsible for WS Type II. Mapping WS Type II requires accurate diagnosis within affected families. To establish diagnostic criteria 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 the literature. Sensorineural hearing loss (77{\%}) and heterochromia iridum (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 manifestations, such as white forelock and skin patches, were more frequent in Type I. We estimate the frequency of phenotypic traits and propose diagnostic criteria for WS Type II. In practice, a diagnosis of WS Type II can be made with confidence given a family history of congenital hearing loss and pigmentary disorders, where individuals have been accurately measured for ocular distances to exclude dystopia canthorum.",
author = "Liu, {Xue Z} and Newton, {V. E.} and Read, {A. P.}",
year = "1995",
month = "2",
day = "28",
doi = "10.1002/ajmg.1320550123",
language = "English",
volume = "55",
pages = "95--100",
journal = "American Journal of Medical Genetics, Part C: Seminars in Medical Genetics",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "1",

}

TY - JOUR

T1 - Waardenburg syndrome type II

T2 - Phenotypic findings and diagnostic criteria

AU - Liu, Xue Z

AU - Newton, V. E.

AU - Read, A. P.

PY - 1995/2/28

Y1 - 1995/2/28

N2 - The Waardenburg syndrome (WS) consists of at least two distinct autosomal dominant hereditary disorders. WS Type I has been mapped to the distal part of chromosome 2q and the gene identified as PAX3. Other gene(s) are responsible for WS Type II. Mapping WS Type II requires accurate diagnosis within affected families. To establish diagnostic criteria 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 the literature. Sensorineural hearing loss (77%) and heterochromia iridum (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 manifestations, such as white forelock and skin patches, were more frequent in Type I. We estimate the frequency of phenotypic traits and propose diagnostic criteria for WS Type II. In practice, a diagnosis of WS Type II can be made with confidence given a family history of congenital hearing loss and pigmentary disorders, where individuals have been accurately measured for ocular distances to exclude dystopia canthorum.

AB - The Waardenburg syndrome (WS) consists of at least two distinct autosomal dominant hereditary disorders. WS Type I has been mapped to the distal part of chromosome 2q and the gene identified as PAX3. Other gene(s) are responsible for WS Type II. Mapping WS Type II requires accurate diagnosis within affected families. To establish diagnostic criteria 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 the literature. Sensorineural hearing loss (77%) and heterochromia iridum (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 manifestations, such as white forelock and skin patches, were more frequent in Type I. We estimate the frequency of phenotypic traits and propose diagnostic criteria for WS Type II. In practice, a diagnosis of WS Type II can be made with confidence given a family history of congenital hearing loss and pigmentary disorders, where individuals have been accurately measured for ocular distances to exclude dystopia canthorum.

UR - http://www.scopus.com/inward/record.url?scp=0028908831&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028908831&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320550123

DO - 10.1002/ajmg.1320550123

M3 - Article

C2 - 7702105

AN - SCOPUS:0028908831

VL - 55

SP - 95

EP - 100

JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

SN - 1552-4825

IS - 1

ER -