Syndromic Deafness – Variant of Waardenburg syndrome
نویسندگان
چکیده
Childhood deafness is quite bothersome and a common problem. EBM documents that serious hearing impairment is found in one in 800 newborns. Amongst the 50 percent of permanent childhood deafness, 30 percent is syndromic and is thought to be because of abnormal genetic makeup. Syndromic cases of deafness are more accurately diagnosed by the associated additional features of the syndrome. Waardenburg syndrome is a rare, autosomally inherited disorder with distinct clinical manifestations of dystopia canthorum, white forelock, congenital hearing loss and heterochromia iridis. Herewith, we are reporting 2 siblings who presented with deaf mutism and with clinically significant notable variations suggestive of a rare presentation of type 1 and type 2 Waardenburg syndrome in the same family.
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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 unilate...
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