Carpenter syndrome is not usually fatal if immediate treatment for the heart defects and/or skull malformations is available. In all but the most severe and inoperable cases of craniosynostosis, it is possible that the affected individual may attain a greatly improved physical appearance. Depending on damage to the nervous system, the rapidity of treatment, and the potential brain damage from excess pressure on the brain caused by skull malformation, certain affected individuals may display varying degrees of developmental delay. Some individuals will continue to have vision problems throughout life. These problems will vary in severity depending on the initial extent of their individual skull malformations, but most of these problems can now be treated.
Cohen, D., J. Green, J. Miller, R. Gorlin, and J. Reed. "Acrocephalopolysyndactyly type II—Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes." American Journal of Medical Genetics (October 1987): 311-24.
Pooh, R., Y. Nakagawa, N. Nagamachi, K. Pooh, Y. Nakagawa, K. Maeda, R. Fukui, and T. Aono. "Transvaginal sonography of the fetal brain: detection of abnormal morphology and circulation." Croation Journal of Medicine (1998): 147-57.
Wilkie, A. "Craniosynostosis: genes and mechanisms." Human Molecular Genetics (1979): 1647-56.
Children's Craniofacial Association. PO Box 280297, Dallas, TX 75243-4522. (972) 994-9902 or (800) 535-3643. contactcca@ccakids.com. <http://www.ccakids.com>.
Craniosynostosis and Parents Support. 2965-A Quarters, Quantico, VA 22134. (877) 686-CAPS or (703) 445-1078. <http://www.caps2000.org/>.
Craniosupport. <http://www.craniosupport.com> (February 8, 2001).
Golwyn, D., T. Anderson, and P. Jeanty. "Acrocephalopolysyndactyly." TheFetus.Net. <http://www.thefetus.net> (February 8, 2001).
Paul A. Johnson
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Author Info: Paul A. Johnson, Thomson Gale, Gale, Detroit, Gale Encyclopedia of Genetic Disorders Part II, 2005 |