Zackai E H, Mellman W J, Neiderer B, Hanson J W
J Pediatr. 1975 Aug;87(2):280-4. doi: 10.1016/s0022-3476(75)80603-2.
Three families are described in which each of the mothers took trimethadione during pregnancy. From a comparison of siblings in each family and of others exposed to trimethadione in utero, a specific phenotype is delineated. Features included in the fetal trimethadione syndrome are developmental delay, speech difficulty, V-shaped eyebrows, epicanthus, low-set ears with anteriorly folded helix, palatal anomaly, and irregular teeth. Additional anomalies in some of the patients include intrauterine growth retardation, short stature, microcephaly, cardiac anomaly, ocular anomaly, hypospadias, inguinal hernia, and simian creases.
本文描述了三个家庭，每个家庭中的母亲在孕期都服用了三甲双酮。通过对每个家庭中的兄弟姐妹以及其他子宫内接触过三甲双酮的人进行比较，确定了一种特定的表型。胎儿三甲双酮综合征的特征包括发育迟缓、言语困难、V形眉毛、内眦赘皮、低位耳伴耳廓向前折叠、腭裂和牙齿不齐。部分患者的其他异常包括宫内生长迟缓、身材矮小、小头畸形、心脏异常、眼部异常、尿道下裂、腹股沟疝和猿线。
