Stoll C, Audeoud F, Gaugler C, Bernardin A, Messer J
Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France.
Genet Couns. 2003;14(3):289-98.
Fetal valproate syndrome results from in utero exposure to valproic acid. It is characterized by a distinctive facial appearence, a cluster of minor and major anomalies, and central nervous system dysfunction. We report on a child exposed prenatally to valproic acid with unusual anomalies. This patient was the first child of young parents. Mother had several generalized seizures one year before this pregnancy, and since than she took valproic acid. Pregnancy was otherwise uneventful. At birth physical examination showed generalized hypertrichosis sparing palms and soles, coarse face, gum hypertrophy, hypotonia, club feet and club hands, two annular constrictions of the right lower leg, and abnormal dermatoglyphics. Skeletal X-rays were normal. Gum hypertrophy and hypertrichosis may be part of a broader pattern of altered morphogenesis in fetus exposed to valproic acid or this patient had two conditions, fetal valproate syndrome and hypertrichosis with gum fibromatosis.
胎儿丙戊酸盐综合征是由于子宫内接触丙戊酸所致。其特征为独特的面部外观、一系列轻微和严重的异常以及中枢神经系统功能障碍。我们报告了一名产前接触丙戊酸且伴有异常畸形的儿童。该患者是年轻父母的第一个孩子。母亲在此次怀孕前一年有几次全身性癫痫发作，从那以后她就服用丙戊酸。此次妊娠其他方面均正常。出生时体格检查发现全身多毛，手掌和脚底除外，面部粗糙，牙龈肥大，肌张力低下，马蹄内翻足和并指（趾）畸形，右小腿有两处环形缩窄，以及皮纹异常。骨骼X线检查正常。牙龈肥大和多毛可能是接触丙戊酸的胎儿形态发生改变的更广泛模式的一部分，或者该患者患有两种疾病，即胎儿丙戊酸盐综合征和伴有牙龈纤维瘤病的多毛症。
