Pendred Syndrome in a Newborn with Neck Swelling: A Case Report.

Abstract

BACKGROUND Pendred syndrome is a rare autosomal recessive condition, characterized by functional impairment of thyroid gland and sensorineural hearing loss. The syndrome presents in patients with homozygous or compound heterozygous mutation. The presentation in the form of neck mass in a newborn is rare. CASE CHARACTERISTICS A 1 month old baby presented… (More)
DOI: 10.1093/tropej/fmw002

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