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  • Print publication year: 2005
  • Online publication date: August 2009

5 - Nephro-urologic, gastrointestinal, and ophthalmic findings

Summary

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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