Volume 19, Issue 72 (Oct 2009)
J Mazandaran Univ Med Sci 2009, 19(72): 77-80 |
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Behzadnia S. Waardenburg syndrome type2 in a 10 month old infant a case report. J Mazandaran Univ Med Sci 2009; 19 (72) :77-80
URL: http://jmums.mazums.ac.ir/article-1-580-en.html
URL: http://jmums.mazums.ac.ir/article-1-580-en.html
Abstract: (11661 Views)
Waardenburg syndrome (WS) is a rare disease characterized by sensor neural deafness in association with pigmentary anomalies and defects of neural-crest-derived tissues. WS is caused by mutations in the microphthalmia-associated with transcription factor gene.
This case is a 10 month old infant girl in which during a routine physical examination found that she has hetetrochromia and unilateral hearing loss. Regard to waardenburg syndrome criteria Type 2, this case report was diagnosed as WS.
WS is classified into four types. WS 2 is characterized by sensorineural hearing loss, lateral displacement of medial canthi (dystopia canthorum), pigmentary disorders of eyes, hair, and skin.
Waardenburg syndrome can be diagnosed easily in the first few months of life, due to prominent phenotypic features. Earlier diagnosis means a more successful rehabilitation of hearing.
Type of Study: Research(Original) |
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