Expanding Phenotype of Fetal Hydantoin
نویسندگان
چکیده
subsequent birth of normal children occur frequently enough to be frustrating for those involved in the evaluation of malformed children and counseling of the parents. The fetal hydantoin syndrome, while a recognizable pattern of malformation in some patients,2 is not such a well defined entity as, for example, achondroplasia or Down syndrome is. It is not uncommon for one to see a child with several features of the “fetal hydantoin syndrome” in the absence of a history of exposure to a hydantoin. The infant reported by Bartoshesky et al could have been malformed due to a genetic mutation (autosomal recessive, X-linked recessive, or new dominant mutation) or chromosomal imbalance. No mention of chromosome studies was made in the report. Although it is possible that the infant had an unusually severe manifestation of the fetal hydantoin syndrome, the report implies that the diagnosis was proven beyond a reasonable doubt. It is misleading and potentially dangerous to investigate a family inadequately and attribute “new findings” to a “known or suspected teratogen.” G. S. PA!, MD Genetics Birth Defects Center Medical University of South Carolina Charleston, SC 29424
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