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- W2064196908 abstract "A three year old female patient presented in ENT OPD with complaints of inability to hear and speak since birth. The child was born to consanguineous parents. The other sibling was normal and there was no family history of congenital hearing loss. The prenatal and perinatal history was normal. General, physical and systemic examination did not reveal any abnormality and all milestones were corresponding to the age. White forelock of hair was present in the frontal region and there were white hair in the (R) eyebrow (Fig. 1). Ear examination did not reveal any abnormality of the pinna, external auditory canal or tympanic membrane. Nose and throat were normal. Free field distraction tests did not produce any response. Ophthalmological examination revealed bilateral heterochromia iridium with hypertelorism and outward displacement of lacrimal punctum. Routine blood and urine examination and radiological examination of temporal bone was normal. IQ tests were normal. Free field audiometry failed to produce any response and BERA revealed profound bilateral sensorineural hearing loss. The patient was advised hearing aid and speech therapy." @default.
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- W2064196908 title "Waardenburg’s syndrome a rare entity" @default.
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- W2064196908 doi "https://doi.org/10.1007/bf02996539" @default.
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