Waardenburg syndrome – diagnostic criteria – A puzzle : Kerala Journal of Ophthalmology

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Letter to the Editor

Waardenburg syndrome – diagnostic criteria – A puzzle

Reghu, Anjali

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Kerala Journal of Ophthalmology 34(3):p 292, Sep–Dec 2022. | DOI: 10.4103/kjo.kjo_120_22
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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. 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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1. Boparai MS, Sohi BK, Sohi AS Waardenburg's syndrome.Indian J Ophthalmol. 1979;27:21–2
2. 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
3. Cant JS, Martin AJ. Waardenburg's syndrome: Report of a family Brit J Ophthal. 1967;51:755–9
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