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5 - Nephro-urologic, gastrointestinal, and ophthalmic findings

Published online by Cambridge University Press:  11 August 2009

By
Koen Devriendt ,
Nathalie Rommel  and
Ingele Casteels
Edited by
Kieran C. Murphy  and
Peter J. Scambler
Koen Devriendt
Affiliation:
Centre for Human Genetics, University Hospital Leuven, Belgium
Nathalie Rommel
Affiliation:
Centre for Paediatric and Adolescent Gastroenterology, Women's and Children's Hospital, Adelaide, Australia
Ingele Casteels
Affiliation:
Department of Ophthalmology, University Hospital Leuven, Belgium
Kieran C. Murphy
Affiliation:
Education and Research Centre, Royal College of Surgeons of Ireland
Peter J. Scambler
Affiliation:
Institute of Child Health, University College London
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Summary

Besides major manifestations such as cardiac defects, ENT-anomalies, and learning difficulties, individuals with a deletion of chromosome 22q11 may present with a large variety of other anomalies. Some of these are probably coincidental, for instance a cleft lip, whereas other malformations are most likely related to the underlying chromosomal aberration, e.g., renal agenesis or anal anomalies. Clinical care for children with multiple congenital anomalies and developmental problems require a personalized approach. Detailed lists of all possible associated anomalies may provoke a blind screening for any potentially hidden disorder. Besides causing an unnecessary financial and physical burden for the child and his family, this often leads to the detection of clinically harmless findings which will cause additional unnecessary anxiety. Examples include the finding of enlarged thrombocytes, or certain structural brain anomalies. As an alternative, it is more appropriate to concentrate on the diagnosis and treatment of clinically important issues, and these will differ from one child to the other, and may vary with age. The best way to provide optimal care is within a multidisciplinary team, where the diagnostic procedures, therapy, and follow-up for each problem are guided by the global needs of the child.

Three systems frequently involved in VCFS are the nephro-urologic and the gastrointestinal systems and the eyes. We will discuss the different manifestations, their pathogenesis and evaluate possible options for diagnosis, treatment and follow-up.

Keywords

feeding pathologygastrointestinal systemnephro-urologic systemnephrocalcinosisvisual impairmentswallowingvelo-cardio-facial syndrome
Type
Chapter
Information
Velo-Cardio-Facial Syndrome
A Model for Understanding Microdeletion Disorders
 , pp. 105 - 122
Publisher: Cambridge University Press
Print publication year: 2005

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