Article
Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I.
Fetal diagnosis and therapy - 1 Jan 2007
Kujat Annegret, Veith Veit-Peter, Faber Renaldo, Froster Ursula G
Abstract excerpt
OBJECTIVE: Waardenburg syndrome type I (WS I) is an autosomal dominant inherited disorder with an incidence of 1:45,000 in Europe. Mutations within the PAX3 gene are responsible for the clinical phenotype ranging from mild facial features to severe malformations detectable in prenatal diagnosis. METHODS: Here, we report a four-generation family with several affected members showing various symptoms of WS I. We...
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