Waardenburg syndrome | Zendy

Manish Mehta | Zendy; Paresh Kavadu | Zendy; Sachin Chougule | Zendy

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Waardenburg syndrome

Author(s) -

Manish Mehta,

Paresh Kavadu,

Sachin Chougule

Publication year - 2004

Publication title -

indian journal of otolaryngology and head and neck surgery

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.229

H-Index - 22

eISSN - 2231-3796

pISSN - 0973-7707

DOI - 10.1007/bf02974395

Subject(s) - waardenburg syndrome , medicine , hearing loss , otorhinolaryngology , audiology , presentation (obstetrics) , canthus , congenital hearing loss , dermatology , ophthalmology , surgery , sensorineural hearing loss , genetics , eyelid , gene , biology , phenotype

We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of skin and hearing loss.Here we report a patient having severe bilateral hearing loss with pigmentary disturbances.

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