Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin.
Pediatr Dermatol
; 26(6): 759-61, 2009.
Article
em En
| MEDLINE
| ID: mdl-20199465
ABSTRACT
We report a 3-year-old girl with autosomal dominant inherited Waardenburg syndrome type I showing circumscribed hypopigmentation of the skin, heterochromia iridis, sensorineural deafness, and dental aberrations. Clinical diagnosis was confirmed by the identification of an underlying missense mutation (C811T) in the PAX3 gene. Early diagnosis of Waardenburg syndrome among children with pigment anomalies enables a successful interdisciplinary medical care.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Waardenburg
/
Hipopigmentação
/
Doenças da Íris
Tipo de estudo:
Prognostic_studies
/
Screening_studies
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Pediatr Dermatol
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Alemanha