Publication: Waardenburg Syndrome Type 1 in an Infant Diagnosed with Congenital Hypothyroidism
Date
2019
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Paediatric Society (JNPS)
Abstract
Abstract:
Waardenburg syndrome type 1 is a rare autosomal dominant auditory-pigmentary syndrome characterised by pigmentary abnormalities of the hair, skin, and eyes associated with congenital non-progressive sensorineural hearing loss. Diagnosis is usually clinical and based on the characteristic clinical features which constitute major and minor criteria. Though hypothyroidism has been described among family members of children with Waardenburg syndrome type 1 there is no reported existence of the two conditions in the same patient. Here we report Waardenburg Syndrome Type 1 in an infant who was already diagnosed to have congenital hypothyroidism and whether it would be a co incidental finding or an association needs further evaluation.
Description
Kavinda Chandimal Dayasiri
Base Hospital Mahaoya, Sri Lanka
Chamila Perera
Teaching Hospital Kuliyapitiya, Sri Lanka
Wasana Bandara
Base Hospital Medirigiriya, Sri Lanka
Jagath Ranasinghe
Great Ormond Street Hospital, United Kingdom
Keywords
congenital hypothyroidism, infant, Waardenburg Syndrome Type 1