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Koen Devriendt, Centre for Human Genetics, University Hospital Leuven, Belgium,
Nathalie Rommel, Centre for Paediatric and Adolescent Gastroenterology, Women's and Children's Hospital, Adelaide, Australia,
Ingele Casteels, Department of Ophthalmology, University Hospital Leuven, Belgium
Kieran C. Murphy, Education and Research Centre, Royal College of Surgeons of Ireland,Peter J. Scambler, Institute of Child Health, University College London
Three systems frequently involved in velo-cardio-facial syndrome (VCFS) are the nephro-urologic and the gastrointestinal systems and the eyes. This chapter discusses the pathogenesis and clinical aspects of these anomalies. It then briefly deals with some other nephro-urological manifestations of VCFS, enuresis, and nephrocalcinosis. The prenatal presentation of uropathies is a special situation. Most cases with a conotruncal heart defect that have been detected antenatally are isolated, but it may be of interest to detect those cases with VCFS. Normal swallowing is usually divided into oral-preparatory, oral, pharyngeal, and esophageal phases. The chapter describes normal feeding and swallowing development as it relates to the feeding pathology seen in infants and children with VCFS. Despite the frequent finding of various ophthalmological manifestations in VCFS, serious ocular involvement is uncommon. It is clear that further research is needed to evaluate the frequency of visual impairment in patients with the VCFS.
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