A postal questionnaire was used to study 49 individuals with Cornelia de Lange syndrome (including both the classical and the mild forms) to ascertain behavioural phenotype. Ages ranged from early childhood to adulthood (mean age, 10.2 years; SD,…
BACKGROUND: Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited blistering skin disorder that is associated with significant esophageal strictures, resulting in dysphagia and nutritional failure. Although endoscopically guided balloon…
Background: Epidermolysis bullosa is a rare genetically determined disorder of the stratified squamous epithelium. Patients with the most severe forms develop scarring of the esophagus after ingestion of food. This results in dysphagia, which…
Aim of the study: To assess the efficacy and safety of endoscopic balloon dilatation of esophageal strictures in children. Material and methods: Design: retrospective case series; population: 49 patients under 18 years of age referred to our center…
We do not know the natural history of dysphagia in classical Rett syndrome (RTT) by stage or age. This study investigated swallowing physiology in 23 females ages 1:7 to 5:8 (years, months) with classical Rett syndrome to determine common and…
