Ehongo A, Cordonnier M, Zanen A, van Bogaert P, Dunac A
Service d'Ophtalmologie, U.L.B.-Hôpital Erasme, Bruxelles.
Bull Soc Belge Ophtalmol. 1995;259:67-76.
A boy aged 12 prematurely born presents several signs of fetal alcohol syndrome (FAS): mild mental retardation, staturoponderal delay, microcephaly, thin philtrum and vermillion of the upper lip. The ophthalmological aspects are: telecanthus, retinal vascular tortuosity, hypoplastic optic discs, hypermetropia, and an uniform, diffuse posterior haze on both corneas. This haze, which is not described till now as part of the syndrome, is not present in the other members of his family. Radiologic and biologic investigations (namely the profile of the urinary and seric amino acids, the urinary organic acids, and the research for mucopolysaccharides) are normal. Karyotype is normal as well as the research for fragile X which is negative.
一名12岁的早产男孩出现了几种胎儿酒精综合征(FAS)的症状:轻度智力迟钝、身体发育迟缓、小头畸形、人中变薄和上唇朱红色。眼科方面的症状有:内眦距增宽、视网膜血管迂曲、视盘发育不全、远视,以及双眼角膜上均匀、弥漫的后层混浊。这种混浊至今未被描述为该综合征的一部分,在他家族的其他成员中也不存在。放射学和生物学检查(即尿和血清氨基酸谱、尿有机酸以及黏多糖检测)均正常。核型正常,脆性X检测也为阴性。