Current knowledge of the etiology of congenital malformations of the human gastrointestinal tract is covered in this book, prefaced by some introductory notes on embryological development. Malformations involving the esophagus, stomach, small and large intestine, anus and rectum, pancreas, and hepato-billiary system are covered. There is a focus on covering those malformations for which a molecular genetic etiology is understood, but other causations, including environmental exposures, twinning, and unknown etiology are also included. For completeness, some disorders are included which are not, strictly, malformations, or which do not, strictly, involve the gastrointestinal tract. Such disorders include Hirschsprung disease, congenital diaphragmatic hernia, omphalocele, and gastroschisis. Suggested approaches to clinical evaluation of individuals with gastrointestinal malformations are included.
Table of Contents
Anus and Rectum
Disorders of Laterality
Malformation Sequences Involving Organs of the GI Tract of Non-genetic or Unknown Etiology
Non-genetic Etiologies in Congenital Malformations of the Gastrointestinal Tract
Future of Genetic Testing in GI Malformations
About the Author(s)Charles Shaw-Smith
, Royal Devon and Exeter Hospital
Charles Shaw-Smith is a Consultant Clinical Geneticist in the Peninsula Regional Genetics Service, Royal Devon and Exeter Hospital, Exeter U.K. From 2006â€“2010, he was a Wellcome Trust Intermediate Clinical Fellow based at Institute of Child Health, London, UK and Wellcome Trust Sanger Institute, Hinxton, Cambridge U.K. Prior to that (2004-2010), Dr. Shaw-Smith was a University Lecturer in Medical Genetics and Honorary Consultant in the East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge U.K. Dr. Shaw-Smith has a longstanding interest in the application of novel genetic technology to the understanding of developmental disorders in humans, in particular those of the gastrointestinal tract.