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Congenital Bilateral Perisylvian syndrome

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Several families with multiple affected members have been reported with possible autosomal recessive, X-linked dominant and X-linked recessive inheritance. Some families have been linked to the Xq28 chromosomal region but the causative gene is not known at present.

Prenatal diagnosis
Prenatal diagnosis using fetal ultrasound or magnetic resonance imaging may be particularly difficult as the regions of the brain that are involved in this malformation may not have reached their final folding until birth.

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Medical text written January 2003 by Contact a Family based on a text provided by Professor R Guerrini. Approved January 2003 by Professor R Guerrini, Istituto Scientifico per la Neuropsichiatria dell'Infanzia e dell'Adolescenza, Pisa, Italy.

 

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