Association of autism spectrum disorder with Waardenburg syndrome in a toddler.
BMJ Case Rep
; 16(9)2023 Sep 07.
Article
em En
| MEDLINE
| ID: mdl-37678941
Waardenburg syndrome is a rare genetic condition with an incidence of 1 in 212 000. The condition is classically associated with distinctive facial features, congenital hearing loss and pigmentary changes of the hair, iris and skin. There is a paucity of literature about the association of neurodevelopmental conditions with this syndrome. We present a toddler with Waardenburg syndrome type 1 who was referred to our service for developmental delay concerns. The child was diagnosed with the condition at birth, had distinctive facial features, but the hearing was normal. The child's father also shares a similar mutation. Following a multidisciplinary assessment, the child was diagnosed to have autism spectrum disorder with possible regression. We acknowledge that there may not be a causal relationship between autism spectrum and Waardenburg syndrome. However, this highlights the need for developmental surveillance among children diagnosed with Waardenburg syndrome and to consider its association with neurodevelopmental conditions.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Waardenburg
/
Transtorno do Espectro Autista
Tipo de estudo:
Diagnostic_studies
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Risk_factors_studies
Limite:
Child, preschool
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Humans
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Newborn
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article