In this video I discuss the pathophysiology, presentation, etiology, associations, diagnostic approach, and management of Beckwith Wiedemann Syndrome.

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Disclaimer #1: This video is partially subjective and based on my experiences teaching and studying medicine. Please note that others may have differing opinions as to which sentences are the most relevant and as to the high yield rating provided. Thank you for watching and please enjoy the video.

Disclaimer #2:: The content in my videos is not intended to be taken as medical advice. Opinions are my own and do not represent those of my employer. I have not personally treated or evaluated any individual(s) discussed in this video. Content used with educational and transformative intent within Fair Use Guidelines

References Include:
https://www.medscape.com/
https://step1.medbullets.com/
https://step2.medbullets.com/
https://www.pathologyoutlines.com/
https://radiopaedia.org/?lang=us

Online: http://www.beckwithwiedemann.org/
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Video abstract of review paper "Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene" published in the open access journal The Application of Clinical Genetics by Milani D, Pezzani L, Tabano S, et al.

Abstract: Genomic imprinting is an epigenetically regulated mechanism leading to parental-origin allele-specific expression. Beckwith–Wiedemann syndrome (BWS) is an imprinting disease related to 11p15.5 genetic and epigenetic alterations, among them loss-of-function CDKN1C mutations. Intriguing is that CDKN1C gain-of-function variations were recently found in patients with IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies). BWS and IMAGe share an imprinted mode of inheritance; familial analysis demonstrated the presence of the phenotype exclusively when the mutant CDKN1C allele is inherited from the mother. Interestingly, both IMAGe and BWS are characterized by growth disturbances, although with opposite clinical phenotypes; IMAGe patients display growth restriction whereas BWS patients display overgrowth. CDKN1C codifies for CDKN1C/KIP2, a nuclear protein and potent tight-binding inhibitor of several cyclin/Cdk complexes, playing a role in maintenance of the nonproliferative state of cells. The mirror phenotype of BWS and IMAGe can be, at least in part, explained by the effect of mutations on protein functions. All the IMAGe-associated mutations are clustered in the proliferating cell nuclear antigen-binding domain of CDKN1C and cause a dramatic increase in the stability of the protein, which probably results in a functional gain of growth inhibition properties. In contrast, BWS mutations are not clustered within a single domain, are loss-of-function, and promote cell proliferation. CDKN1C is an example of allelic heterogeneity associated with opposite syndromes.

Read the full paper here: http://www.dovepress.com/artic....les.php?article_id=1

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Mercy Clinic Kids Plastic Surgery Dr. Earl Gage discusses the team approach to caring for kids with Beckwith-Wiedemann Syndrome at Mercy Children's Hospital. Click more information: https://mercy.net/practice/mer....cy-clinic-kids-plast

Mercy Clinic Kids Plastic Surgery Dr. Earl Gage discusses the team approach to caring for kids with Beckwith-Wiedemann Syndrome at Mercy Children's Hospital. Click more information: https://mercy.net/practice/mer....cy-clinic-kids-plast

Happy BWS Awareness Day!

I am a mom to a real life superhero…he is big, brave, strong, and even has a heart of gold. What more could any mom ask for? We have so much fun celebrating Beckwith-Wiedemann Syndrome. We printed a book that he could share with his classmates. We also had fun decorating BWS butterfly cookies. He takes so much pride in sharing how God made him special. He knows he has some struggles, but we all do.

Our motto is: “In a world where you can be anything…BE KIND! I hope you enjoy his video. Leave a little comment to Jake if you would like to help him celebrate. We are so proud of him!

Please visit our website to download your own printable BWS book to personalize: http://www.mybwsbaby.com/a-day-in-the-life-of-bws