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April 1981

Picture of the Month

Am J Dis Child. 1981;135(4):371-372. doi:10.1001/archpedi.1981.02130280061020

Denouement and Discussion 

Fetal Hydantoin Syndrome 

Manifestations  Major manifestations of fetal hydantoin syndrome include prenatal and postnatal growth retardation, microcephaly, developmental delay, and a variety of craniofacial anomalies. The latter consist of a prominent metopic suture, broad nasal bridge, small upturned nose, epicanthal folds, mild ocular hypertelorism, ptosis of the eyelids, strabismus, cleft lip and palate, wide mouth with prominent lips, low posterior hairline, and short neck. Congenital heart disease is not uncommon. Limb anomalies include hypoplasia of the nails and distal phalanges, finger-like thumb, club feet, polydactyly, lumbar scoliosis, and congenital dislocated hip. Less frequently occurring manifestations are diaphragmatic hernia, various genitourinary abnormalities, and abnormal dermatoglyphics. Such a diagnosis should be considered in infants who have been exposed prenatally to hydantoin anticonvulsants.

Genetics  The cause does not appear to be genetic but secondary to maternal ingestion of hydantoin anticonvulsants during early pregnancy. There is controversy concerning the role that maternal seizures play in the etiology of this