Thanatophoric Dysplasia Health Article

Treatment and management

The treatment and care of an infant with TD is mainly supportive. The poor prognosis associated with TD should be discussed. Infants who survive the newborn period will require intensive, ongoing medical care.

Prognosis

Nearly all infants with TD, both types 1 and 2, die either at the time of delivery or shortly thereafter due to severe respiratory distress. Aggressive medical treatment after birth has not always helped affected infants live even a short amount of time. Prolonged survival, including one child who, as of 1997, was still alive at the age of nine years, has been reported but is highly unusual. Survival is associated with poor growth and development and with continuing, serious respiratory problems.

BOOKS

"Disorders Involving Transmembrane Receptors." In Nelson Textbook of Pediatrics, edited by Richard E. Behrman, Robert M. Kleigman, and Hal B. Jenson. 16th ed. Philadelphia: W.B. Saunders, 2000, pp. 2120-2122.

Smith's Recognizable Patterns of Malformations, edited by Kenneth L. Jones. 5th ed. Philadelphia: W.B. Saunders, 1997, p. 338.

PERIODICALS

Baker, Kristin M., et al. "Long-term Survival in Typical Thanatophoric Dysplasia Type 1." American Journal of Medical Genetics 70, no. 4 (June 27, 1997): 427-436.

Cohen, M. Michael, Jr. "Achondroplasia, Hypochondroplasia, and Thanatophoric Dysplasia: Clinically Related Skeletal Dysplasias That Are Also Related at the Molecular Level." International Journal of Oral and Maxillofacial Surgery 27, no. 6 (December 1998): 451-455.

Garjian, Kareen V., et al. "Fetal Skeletal Dysplasias: Three-dimensional Ultrasound—Initial Experience." Radiology 214, no. 3 (March 2000): 717-723.

Wilcox, William R., et al. "Molecular, Radiologic, and Histopathologic Correlations in Thanatophoric Dysplasia." American Journal of Medical Genetics 78, no. 3 (July 7, 1998): 274-281.

ORGANIZATIONS

Greenberg Center for Skeletal Dysplasias. 600 North Wolfe Street, Blalock 1012C, Baltimore, MD 21287-4922. (410) 614-0977. <http://www.med.jhu.edu/Greenberg.Center/Greenbrg.htm>.

WEBSITES

Dwarfism.org. <http://www.dwarfism.org>.

OMIM—Online Mendelian Inheritance in Man. <http://www.ncbi.nlm.nih.gov>.

Terri A. Knutel, MS, CGC