Waardenburg Syndrome: A Case Report

Main Article Content

Sara Sadiq
Azizullah Langah
Ali Akbar Siyal
Noor Ul Ain Ali

Abstract

Waardenburg syndrome is an uncommon autosomal dominant or recessive disorder, distinguished by hypopigmentation of either skin or hairs or both, segmental, partial or complete heterochromia iridis or isohypochromia, hypertrichosis of eyebrow, synophrys, dystopia canthorum, broad and high nasal root and congenital deafness. The diagnostic criteria consist of major and minor criteria; major includes congenital sensorineural hearing loss, pigmentary abnormality in iris, segmental, partial or complete heterochromia iridis, isohypochromia, fore hair’s achromia, dystopia canthorum and affected first degree relative while minor criteria include congenital leukoderma, synophrys, broad and high nasal root, hypoplasia of nasal alae and premature graying of hair.

Herein we report a case of two days old baby boy having uncommon pigmentation of hair and iris beside dystopia canthorum. He was diagnosed as a case of Waardenburg Syndrome type1 (WS1).

Keywords:
Waardenburg syndrome, heterochromia iridis, dystopia canthorum

Article Details

How to Cite
Sadiq, S., Langah, A., Siyal, A. A., & Ain Ali, N. U. (2019). Waardenburg Syndrome: A Case Report. Asian Journal of Pediatric Research, 2(4), 1-4. Retrieved from http://journalajpr.com/index.php/AJPR/article/view/30113
Section
Case Report

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