Waardenburg syndrome. A case report and review of literature
Jordan Medical Journal. 2002; 36 (1): 57-59
em Inglês
| IMEMR
| ID: emr-59598
ABSTRACT
Waardenburg syndrome is an autosomal dominantly inherited disorder with variable penetrance affecting 3% of all deaf children[1]. Genetic studies revealed a mutation in the PAX3 geneon the 2Q35 region. The major characteristic features are Dystopia canthorum; Synophrys; Broad nasal root; Depigmentation of hair, skin or both with white forelock; Heterochromic or hypochromic irides and congenital deafness. Genetic heterogenicity has led to classification of affected families as type I with dystopia canthorum, or type II, without dystopia canthorum disease. This article reviews the literature and describes a case of Waardenburg syndrome type I in a twelve month old male child
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Revisão
/
Perda Auditiva Neurossensorial
/
Doenças Genéticas Inatas
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Jordan Med. J.
Ano de publicação:
2002
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