Fetal trimethadione syndrome

Fetal trimethadione syndrome

Fetal trimethadione syndrome (also known as paramethadione syndrome, German syndrome, tridione syndrome, among others [Additional names include "trimethadione embryopathy" and "trimethadione syndrome".] ) is a set of birth defects caused by the administration of the anticonvulsants trimethadione (also known as Tridione) or paramethadione to epileptic mothers during pregnancy. [ [http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=paramethadione+syndrome&field=name Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes] - Retrieved January 2007]

Fetal trimethadione syndrome is classified as a rare disease by the National Institute of Health's Office of Rare Diseases, [ [http://rarediseases.info.nih.gov/asp/diseases/diseaseinfo.asp?ID=2462 Fetal trimethadione syndrome on the ORD website.] Retrieved January 2007] meaning it affects less than 200,000 individuals in the United States. [ [http://rarediseases.info.nih.gov/html/resources/about_ord.html Rare Diseases] Retrieved January 2007]

The fetal loss rate while using trimethadione has been reported to be as high as 87%. [ [http://www.emedicine.com/med/topic3242.htm Teratology and Drug Use During Pregnancy] Retrieved January 2007]

Characteristics

Fetal trimethadione syndrome is characterized by the following major symptoms as a result of the teratogenic characteristics of trimethadione. [ [http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=paramethadione+syndrome&field=name Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes] - Retrieved January 2007] [ [http://archpedi.ama-assn.org/cgi/content/abstract/131/12/1389 The fetal trimethadione syndrome: report of an additional family and further delineation of this syndrome] Retrieved January 2007]

* Cranial and facial abnormalities which include; microcephaly, midfacial flattening, V-shaped eyebrows, and a short nose
* Cardiovascular abnormalities
* Absent kidney and ureter
* Meningocele, a birth defect of the spine
* Omphalocele, a birth defect where portions of the abdominal contents project into the umbilical cord
* A delay in mental and physical development

References

External links


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