#Beckwith-Wiedemann syndrome #Overgrowth #Macroglossia #Hemihyperplasia #Omphalocele #발달주치의 #임신영
157. Beckwith-Wiedemann syndrome : Introduction

00:00 Introduction
00:16 What is Beckwith-Wiedemann syndrome?
02:34 Symptoms and signs of Beckwith-Wiedemann syndrome
04:31 Prevalence of Beckwith-Wiedemann syndrome
04:46 Summary

Beckwith-Wiedemann syndrome (BWS) is a congenital (present at birth) overgrowth syndrome that occurs in approximately one in 15,000 births. A syndrome is a collection of features often seen together. BWS is variable – some children have a number of features of the condition, others have only one or two. in this condition features of body are increased or overgrowth.
signs and symptoms of BWS
The most common features of the condition include:
-Increased height and weight at birth or in childhood.
-Asymmetry of growth, for example one arm or leg larger than the other (hemihypertrophy).
-Large tongue size (macroglossia).
Low blood sugar in the first few days or weeks of life (neonatal hypoglycaemia).
Umbilical hernia or other abdominal wall defect, for example exomphalos where the intestines and sometimes other organs such as the liver remain inside the umbilical cord but outside the abdomen at birth.
-Some children with the condition are at risk of Wilms' tumour of the kidney.
-Other features of the condition include subtle alterations in the shape of the ears and, rarely, cleft palate or a congenital heart defect. Tumours other than Wilms' tumour, for example hepatoblastoma (childhood liver tumour), occasionally occur in childhood but are much less common. Learning difficulties are not part of the condition other than in the very small number of children with a complex chromosome abnormality.

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Leo González padece el Síndrome de Beckwith Wiedemann, razón por la que se ha sometido a 7 operaciones de alto riesgo

Genetics and Dysmorphology: Achondroplasia, Smith-Lemli-Opitz, Williams, and Beckwith Wiedemann Syndromes. Learn the characteristics, etiology, and how to manage with Peds Board Review: hippoed.com/peds/boardreview

Genetics Made Easy

At just 4 months old, Jonah Arlein was diagnosed with Beckwith-Wiedemann syndrome – a genetic condition that carries an increased risk of childhood cancer, especially of the liver and kidneys. After eight years of visits every three months with Overlook's Radiology Department, Jonah is no longer at risk.