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 NET CASE
Year : 2006  |  Volume : 72  |  Issue : 4  |  Page : 326-

Waardenburg syndrome


1 Department of Dermatology, Government Medical College, Patiala - 147 001, Punjab, India
2 Department of Ophthalmology, Government Medical College, Patiala - 147 001, Punjab, India

Correspondence Address:
Sunita Tagra
55, Surjit Nagar, Kapurthala Road, Jalandhar City, Punjab - 144 002
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0378-6323.26718

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Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.






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Online since 15th March '04
Published by Wolters Kluwer - Medknow