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Topic:   Perlman syndrome

makita5p Member

posted 06-27-2008 02:02 AM             I am following a little boy with prorable Perlman syndrome. His birth weighted very large for date, and had marked hypotonia, characteristic face. Brain MRI showed agenesis of corpus collosum. So We have diagnosed he have Perlman syndrome, now do ultrasound follow-up every 4 months. His development is very slow and developesd convulsive disorder. Now feeding problem and respiratory problem are also coccured. I would be pleased to hear from those taking care of Perlman syndrome children what their experience has been and if children die young what has been the cause of death except Wilms tumor. Thanks, ------------------ Yoshi MD,Ph D IP: 202.243.18.136

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