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Year : 2020  |  Volume : 15  |  Issue : 2  |  Page : 327-329

Case of waardenburg syndrome type 1 in a family with dental abnormalities

1 Department of Pediatric Dentistry, Government Dental College and Hospital, Aurangabad, Maharashtra, India
2 Department of Mechanical Engineering, GECA, Aurangabad, Maharashtra, India

Correspondence Address:
Dr. Chaitali Hambire
Government Dental College and Hospital, Aurangabad 431 001, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jdmimsu.jdmimsu_64_20

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Waardenburg syndrome type 1 (WS1; MIM #193500) is a rare autosomal-dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and “dystopia canthorum.” The lateral displacement of the ocular inner canthi was caused by heterozygous mutation in the PAX3 gene on chromosome 2q36. This is the case report of a 7-year-old girl showing the characteristic features of WS1 with familial history. Four generations of the patient's family, comprising 32 members, were undertaken to determine the pattern of inheritance, expression of syndrome, and phenotypes. The clinical examination of the 32 family members (18 females, 14 males) showed that ten females (31.25%) and eight males (25%) were affected by WS1. The age of the patients ranged between 3 years and 76 years (mean 24.67 years). Out of 18 family members with WS1, ten members showed white forelock, six members showed dystopia canthorum, eight members had congenital sensorineural hearing loss, seven members had iris heterochromia, and three members had bilateral brilliant blue irises. Dental abnormalities were shown by nine family members including enamel hypoplasia, peg-shaped maxillary laterals, conical teeth, and class 3 malocclusion.

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