Online: http://www.beckwithwiedemann.org/
Facebook: https://www.facebook.com/BWCFI

Online: http://www.beckwithwiedemann.org/
Facebook: https://www.facebook.com/BWCFI
Instagram: https://www.instagram.com/bwcfi_intl

Beckwith-Wiedemann syndrome, also called BWS, is a rare genetic disorder commonly characterized by overgrowth. Learn more: http://www.chop.edu/bws

The severity of BWS varies widely in children and is usually recognized at birth, when a child is born with several features of Beckwith-Wiedemann syndrome. Beckwith-Wiedemann syndrome symptoms can include an enlarged tongue (macroglossia), abdominal wall defects like omphalocele, low blood sugar (hypoglycemia), body asymmetry (hemihypertrophy), and an increased risk for tumors.

In this video, pediatric experts from Children’s Hospital of Philadelphia (CHOP) explain the challenges in diagnosing and caring for children with Beckwith-Wiedemann syndrome, and why a comprehensive treatment approach is so important.

A diagnosis of Beckwith-Wiedeman syndrome is made by physical examination. Genetic testing can also help confirm the clinical diagnosis.

Because of the increased risk for tumors, tumor screening is recommended, with a focus on two types of cancer — cancer of the liver (hepatoblastoma) and a cancer of the kidney called Wilms tumor.

Children with BWS require highly specialized care from different pediatric specialists with expertise managing this complex genetic disorder. Children’s Hospital of Philadelphia is a leader in the treatment of Beckwith-Wiedemann syndrome, and is actively engaged in research to better understand the causes of BWS and find new ways to manage the disorder.

These Beckwith-Wiedemann syndrome research efforts include a Beckwith-Wiedemann syndrome registry, which collects clinical data and samples to help researchers and clinicians better understand the unanswered questions in BWS.

Hear from Jennifer Kalish, MD, PhD, pediatric geneticist; Garrett Brodeur, MD, pediatric oncologist; Jesse Taylor, MD, pediatric plastic surgeon; and Matthew Deardorff, MD, PhD, pediatric geneticist, as they explain CHOP’s comprehensive approach to caring for patients and families affected by BWS.

Families also share how they felt when they received a diagnosis of Beckwith-Wiedemann syndrome, and the hope and care they found at CHOP.

DMCN Author Podcast

In this podcast, William Whitehouse discusses his paper, entitled 'Longitudinal analysis of the neurological features of Ataxia Telangiectasia'.

Read the paper here: http://onlinelibrary.wiley.com..../enhanced/doi/10.111

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DMCN Journal:
Developmental Medicine & Child Neurology (DMCN) has defined the field of paediatric neurology and childhood-onset neurodisability for over 60 years. DMCN disseminates the latest clinical research results globally to enhance the care and improve the lives of disabled children and their families.

DMCN Journal - https://onlinelibrary.wiley.com/journal/14698749
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We exist to improve the lives of disabled children by extending the knowledge and understanding of developmental medicine and paediatric neurology. We publish the journal DMCN and books in related subject areas. These are of interest to researchers, health professionals, clinicians, therapists, parents and all involved in the care of children and young people with neurodevelopmental conditions.

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