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Diagnosis

Diagnostic Study of Choice

There are no established criteria for the diagnosis of fetal hydantoin syndrome.

History and Symptoms

The patient with fetal hydantoin syndrome have positive history of exposure to phenytoin during pregnancy. The diagnosis of fetal hydantoin syndrome is based on secondary to in utero phenytoin exposure. The risk of neurological impairment estimated to be 1% to 11% is 2 to 3 times higher than in the general population. The risk of oral clefts and cardiac anomalies is 5 times than others in hydantoin exposed infants. Less frequently observed abnormalities include microcephaly, ocular defects, hypospadias, umbilical and inguinal hernias.

Physical Examination

Common physical examination findings of fetal hydantoin syndrome includes

• microcephaly, distinctive facial and limb anomalies, ocular defects, growth deficiency, congenital heart defects, cardiac rhythm disturbances, and variable systemic abnormalities involving the nervous, renal, and gastrointestinal systems.
• Congenital heart diseases associated with fetal hydantoin syndrome include pulmonary or aortic valvular stenosis, coarctation of aorta, patent ductus arteriosus, and ventricular septal defects.