By Azad Najmaldin Pierre J. Guillou
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Extra info for A guide to laparoscpic surgery
N. Engl. J. Med. 342, 256–263. 5. Nora, J. J. and Nora, A. H. (1988) Update on counseling the family with a firstdegree relative with a congenital heart defect. Am. J. Med. Genet. 29, 137–142. 6. Nora, J. J. and Nora, A. H. (1976) Recurrence risks in children having one parent with a congenital heart disease. Circulation 53, 701–702. 7. Sklansky, M. (2003) New dimensions and directions in fetal cardiology. Curr. Opin. Pediatr. 15, 463–471. 8. University of Washington and Children’s Health System (March 24, 2004).
One example is Ivemark syndrome, characterized by asplenia, CHMs (mostly ASDs, AVSDs, and conotruncal malformations) (81), malposition and maldevelopment of the abdominal organs, and abnormal lobation of the lungs. Ivemark syndrome is a recessive condition, but is most often sporadic. Individuals with Smith–Lemli–Opitz syndrome, a recessive condition caused by mutations in the sterol δ-7-reductase on chromosome 11q12–q13 (82), are also afflicted with AVSDs. In one report, approx 21% affected individuals had a diagnosis of AVSD (83).
Ultimately, all of the septa fuse with the AV cushions, and these cushions divide the AV canal into left and right canals. Although many genes that regulate septogenesis remain to be identified, several genes have been shown to play key roles in septation. Historically, recurrence risk assessment for CHM in individuals and their relatives was based on epidemiological data (5,6). As the genetic bases for many types of CHMs are elucidated, genetic counseling for such families is increasingly refined and effective.
A guide to laparoscpic surgery by Azad Najmaldin Pierre J. Guillou