Abstract
Three families are described in which each of the mothers took trimethadione during pregnancy. From a comparison of siblings in each family and of others exposed to trimethadione in utero, a specific phenotype is delineated. Features included in the fetal trimethadione syndrome are developmental delay, speech difficulty, V-shaped eyebrows, epicanthus, low-set ears with anteriorly folded helix, palatal anomaly, and irregular teeth. Additional anomalies in some of the patients include intrauterine growth retardation, short stature, microcephaly, cardiac anomaly, ocular anomaly, hypospadias, inguinal hernia, and simian creases.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Abnormalities, Drug-Induced* / diagnosis
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Abnormalities, Multiple / chemically induced
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Anthropometry
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Child, Preschool
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Developmental Disabilities / chemically induced
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Ear, External / abnormalities
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Epilepsy, Absence / drug therapy*
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Eye Abnormalities
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Eyebrows / abnormalities
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Female
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Fetal Diseases / chemically induced
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Fetus / physiology
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Growth Disorders / chemically induced
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Hand Deformities, Congenital
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Hearing Disorders / congenital
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Hernia, Inguinal / chemically induced
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Hernia, Inguinal / congenital
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Humans
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Hypospadias / chemically induced
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Infant
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Male
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Microcephaly / chemically induced
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Oxazoles / adverse effects*
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Palate / abnormalities
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Phenobarbital / therapeutic use
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Pregnancy
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Pregnancy Complications / drug therapy*
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Speech Disorders
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Syndrome
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Teratogens
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Tooth Abnormalities / chemically induced
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Trimethadione / adverse effects*
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Trimethadione / therapeutic use
Substances
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Oxazoles
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Teratogens
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Trimethadione
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Phenobarbital