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. 2022 Jul;70(7):2679-2681.
doi: 10.4103/ijo.IJO_3003_21.

Waardenburg Syndrome Type 1

Rakshit Agrawal  1 , Shweta Walia  1
Affiliations

Waardenburg Syndrome Type 1

Rakshit Agrawal et al. Indian J Ophthalmol. 2022 Jul.
No abstract available

Keywords: Auditory-pigmentary syndrome; Heterochromia iridium; Waardenburg syndrome; dystopia canthorum.

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Conflict of interest statement

None

Figures

Figure 1
Figure 1
The figure shows a clinical image depicting clinical features of Waardenburg syndrome type 1; (Dystopia canthorum, flat nasal root and Heterochromia Iridium).
Figure 2
Figure 2
To calculate the W index: (1) Measure (a-c) in mm using a rigid ruler held against the face. (2) Calculate X = (2a 0.2119c-3.909)/c. (3) Calculate Y = (2a-0.2479b-3.909)/b. (4) Calculate W = X+ Y + a/b. WS type I is diagnosed if the average W of all affected family members is 1.95 or more. (a-c) is measured using a rigid ruler.
See this image and copyright information in PMC

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References

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    1. Arias S, Mota M. Apparent non-penetrance for dystopia in Waardenburg syndrome type 1 with some hints on the diagnosis of dystopia canthorum. J Genet Hum. 1978;26:101–31. - PubMed
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    1. Liu XZ, Newton VE, Read AP. Waardenburg syndrome type II:Phenotypic findings and diagnostic criteria. Am J Med Genet. 1995;55:95–100. - PubMed

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