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GeneReviews™

GeneReviews are expert-authored, peer-reviewed disease descriptions focused on the diagnosis, management and genetic counseling for people with inherited conditions.

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Down Syndrome Checklist: Birth

Learning that your child has Down syndrome can be overwhelming. This checklist was developed to help guide you through the first steps.

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How to Give an Enema to a Child

Learn how to administer a saline, mineral oil or Bisacodyl enema to a child. This video offers parents and caregivers step-by-step instructions. 

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How Anorectal Manometry Is Performed

In this video for parents and caregivers, you'll learn about prep instructions for an anorectal manometry exam, what to expect during the procedure and what your child will need to do during the test.

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How Esophageal Manometry Is Performed

Esophageal manometry is a procedure that measures pressure, sensation and coordination of the esophageal muscles. In this video for parents and caregivers, you'll learn about what you and your child can expect during this procedure and watch as it's performed on a medical mannequin

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Beckwith-Wiedemann Syndrome Support Group – U.K.

Beckwith-Wiedemann Syndrome Support Group – U.K. supports families of children with Beckwith-Wiedemann syndrome, promotes public and professional awareness of BWS, and supports and encourages research.

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