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Year : 2022  |  Volume : 34  |  Issue : 3  |  Page : 292

Waardenburg syndrome – diagnostic criteria – A puzzle

Department of Ophthalmology, Sree Gokulam Medical College and Research Foundation, Venjaramoodu, Trivandrum, Kerala, India

Date of Submission02-Nov-2022
Date of Decision06-Nov-2022
Date of Acceptance28-Nov-2022
Date of Web Publication22-Dec-2022

Correspondence Address:
Dr. Anjali Reghu
Department of Ophthalmology, Sree Gokulam Medical college and Research Foundation, Venjaramoodu, Trivandrum, Kerala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/kjo.kjo_120_22

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How to cite this article:
Reghu A. Waardenburg syndrome – diagnostic criteria – A puzzle. Kerala J Ophthalmol 2022;34:292

How to cite this URL:
Reghu A. Waardenburg syndrome – diagnostic criteria – A puzzle. Kerala J Ophthalmol [serial online] 2022 [cited 2023 Feb 2];34:292. Available from: http://www.kjophthal.com/text.asp?2022/34/3/292/364712

The article by Shruthy Vaishali Ramesh et al. (KJO Vol. 34 Issue 2) has excellently illustrated the disease entity and diagnostic criteria of  van der Hoeve-Halbertsma-Waardenburg syndrome More Details. The neonate underwent an in-depth examination by the authors and with the major and minor criteria, they diagnosed the syndrome. The parents were also examined and genetic counseling was given which is an essential part of the rehabilitation of the child, was also meticulously done by the authors.

There are a few things that I would want to share from an academic perspective.

  1. The white forelock (Leucismus pilorum (poliosis)) mentioned in the major criteria can disappear after the neonatal period,[1] hence this feature of the syndrome is not peculiar to it, but a white forelock may be inherited as a separate entity.[2]
  2. It is mostly inherited in an autosomal dominant pattern. Type 1 is usually autosomal dominant, only type 4 has a recessive inheritance. In this scenario, authors were suggesting a possibility of autosomal recessive inheritance, though it was categorized as type 1.[3]

A family showing all the stigmata of Waardenburg syndrome in three generations and a plastic operation to correct the most commonly described feature has been comprehensively described by Cant and Martin in 1963.[3]

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There are no conflicts of interest.

  References Top

Boparai M S, Sohi BK, Sohi A S. Waardenburg's syndrome.Indian J Ophthalmol 1979;27:21-2.  Back to cited text no. 1
  [Full text]  
Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 1951;3:195-253.  Back to cited text no. 2
Cant JS, Martin AJ. Waardenburg's syndrome: Report of a family. Brit J Ophthal 1967;51:755-9.  Back to cited text no. 3


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