A Case of Fetal Valproate Syndrome Associated with Both Elbow Joint Contractures

팔꿈치관절의 구축을 동반한 Fetal Valproate 증후군 1례

Fetal valproate syndrome has been described as a distinctive pattern of minor anomalies of the face and digits. This pattern has not been delineated completely but appears to involve brachycephaly with a high forehead, shallow orbit, ocular hypertelorism, small nose, small mouth, low set posteriorly rotated ears, long overlapping fingers and toes, and hyperconvex fingernail. Cleft palate and congenital heart disease have occasionally been described in babies exposed to valproate during embryogenesis. We report a neonate born from an epileptic mother receiving sodium valproate during pregnancy. This neonate presented with characteristic facial abnormalities, both elbow contractures, and overlapping of right first and second toe, forth and fifth toe, and left first and second toe. This case raises the possibility that these abnormal appearances might be caused by intrauterine valproate exposure.

저자들은 임신 1개월 전 전신강직간대성 발작이 있어 임신 중에 발작 조절을 위해 valproate를 복용한 산모의 아이에게서 양 팔꿈치의 구축을 동반한 fetal valproate syndrome의 특징을 지닌 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.