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Year : 2018  |  Volume : 11  |  Issue : 2  |  Page : 158-160  

Waardenburg syndrome: A rare case

1 Departments of Dentistry, VSPM Dental College and Hospital, Nagpur, Maharashtra, India
2 Ophthalmology, Mahatma Gandhi Institute of Medical Sciences, Wardha, Maharashtra, India
3 Department of Public Health Dentistry, VSPM Dental College and Hospital, Nagpur, Maharashtra, India

Date of Web Publication28-May-2018

Correspondence Address:
Shivlal M Rawlani
Department of Dentistry, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ojo.OJO_51_2014

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Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for its heterogenisity . Even among people affected in the same family,the features do vary. Unilateral heterochromia that manifests as lighter pigmentation of one iris is associated with Waardenburg syndrome and Parry-Romberg syndrome and less commonly with Hirschsprung disease. A case of ten yrs. old boy with a typical facial profile and hearing loss is reported.

Keywords: Hearing loss, heterochromia, hypopigmentation, Waardenburg syndrome, white forelock

How to cite this article:
Rawlani SM, Ramtake R, Dhabarde A, Rawlani SS. Waardenburg syndrome: A rare case. Oman J Ophthalmol 2018;11:158-60

How to cite this URL:
Rawlani SM, Ramtake R, Dhabarde A, Rawlani SS. Waardenburg syndrome: A rare case. Oman J Ophthalmol [serial online] 2018 [cited 2023 Mar 30];11:158-60. Available from: https://www.ojoonline.org/text.asp?2018/11/2/158/233318

   Introduction Top

Waardenburg syndrome (WS) is a rare inherited disorder of neural crest cell development. It usually shows an autosomal dominant mode of inheritance, but autosomal recessive inheritance patterns are observed in some subtypes.[1] The highest reported incidence of WS is among Kenyan Africans. The prevalence varies from 1:20000 to 1:40000.[2] WS accounts for between 2% and 5% of cases of congenital deafness.[3]

WS syndrome is characterized by physical absence of melanocytes affecting skin, hair, eyes, or stria vascularis of cochlea.[4] Either 2 major or 1 major and 2 minor criteria should be present for a diagnosis of WS [Table 1].[5]
Table 1: Major and minor criteria of Waardenburg syndrome

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We report a 10-year-old boy with typical facial features of WS and hearing loss.

Four subtypes (I–IV) have been described with different clinical features and with variable expression of genes [Table 2].[4],[5]
Table 2: Clinical features and differentiating features of different sub-types of Waardenburg syndrome with genetic consideration

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   Case Report Top

A 10-year-old boy was referred to ophthalmic outpatient department for examination; it was observed that both irides of patients are abnormally brilliant blue in color. The patient also gave a history of hearing impairment in his right ear.

Ophthalmological examination revealed hypoplastic blue iris in his left eye and sectoral heterochromia with hypoplastic blue iris in his right eye [Figure 1]. The pupils were briskly reacting. Dilated fundi showed pigment mottling, a cup: disc ratio of 0.3:1, and normal-appearing macula.
Figure 1: Hypoplastic blue iris in the left and right eye and sectoral heterochromia in the right eye

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He had a wide intercanthal distance. The inner and outer canthal distances were measured with a hard ruler and were found to be 40 and 100 mm, respectively. His eyebrows were normal in appearance, with no midline touch (synophris). He had a broad nasal root and his alae nasi were hypoplastic. The child had two white streaks of hair in the midline area corresponding to frontal area and occipital area. Examination of scalp did not show any patch of depigmentation. A hypopigmented patch was seen on his left cheek [Figure 2]. A large hypopigmented patch with clear outlines of normal pigmentation was seen on his upper abdomen [Figure 3].
Figure 2: Streaks of white hair in midline area, and hypopigmented patch on the left cheek region

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Figure 3: Hypopigmented patch on upper abdomen

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Ear, nose, and throat consultation was sought and revealed bilateral hearing impairment with 83.3 dB loss in the right ear and 28.3 dB loss in the left ear. As per the WHO classification of hearing loss, the patient was classified to have severe (71–91 dB) and mild (26–48 dB) hearing loss in his right and left ears, respectively.[6]

The Waardenburg index was calculated, which was 2.343 (>1.95). On this basis, a diagnosis of WS subtype I was made.[7]

The patient was given an amplification device (a behind the ear hearing aid) for his right ear and was planned for a cochlear implant. He was advised lip reading and was cautioned for the use of ototoxic drugs.

   Discussion Top

WS syndrome is characterized by physical absence of melanocytes affecting skin, hair, eyes, or stria vascularis of cochlea.[2],[3] When present, melanoblasts may fail to reach their respective locations or may not attain their final differentiation. As limb muscles and intestinal ganglia are also derived from neural crest cells, involvement of limb muscles in Type III and that of intestinal ganglia in Type IV is attributed to a developmental anomaly of neural crest cells. A possibly increased risk of neural tube defects is also reported with WS I subtype.

Heterochromia iridis (one iris with a different color than the other) result from differences in distribution and concentration of melanin in the iris. In case of heterochromia iridum, some part of the same eye is affected while the remaining part appears normal. In the present case, bilateral iris hypochromia was present showing typically blue iris. These types of findings are mainly reported with WS Type I.

Genetic and molecular studies for the early detection and multidisciplinary approach toward management are required.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

   References Top

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. 1
Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N, et al. Review and update of mutations causing Waardenburg syndrome. Hum Mutat 2010;31:391-406.  Back to cited text no. 2
Nayak CS, Isaacson G. Worldwide distribution of Waardenburg syndrome. Ann Otol Rhinol Laryngol 2003;112:817-20.  Back to cited text no. 3
Dourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK. Waardenburg syndrome. Int J Dermatol 1999;38:656-63.  Back to cited text no. 4
Farrer LA, Grundfast KM, Amos J, Arnos KS, Asher JH Jr., Beighton P, et al. Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2:First report of the WS consortium. Am J Hum Genet 1992;50:902-13.  Back to cited text no. 5
World Health Organization: Prevention of Blindness and Deafness; Grades of Hearing Impairment; 1980. Available from: http//www.who.org.hearingimpairment. [Last accessed on 2014 Mar 24].  Back to cited text no. 6
Faivre L, Vekemans M. Waardenburg Syndrome Type I, Orphanet Encyclopedia; April, 2005. Available from: http://www.orpha.net/data/patho/GB/uk-WSI(05).pdf. [Last accessed on 2014 Mar 24].  Back to cited text no. 7


  [Figure 1], [Figure 2], [Figure 3]

  [Table 1], [Table 2]


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