212,479例连续出生的先天性眼睛畸形。

Annales de genetique Pub Date : 1997-01-01
C Stoll, Y Alembik, B Dott, M P Roth
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引用次数: 0

摘要

对连续出生的212479例先天性眼畸形进行了小范围的研究。对1979年至1994年期间研究的145例新病例中的每一例,在先证者和对照组中比较了50多个因素。先天性眼畸形患病率为6.8 / 10000,其中小眼1.7 / 10000,眼无0.23 / 10000,白内障2.7 / 10000,结肠畸形1.4 / 10000。性别比为0.82。产前诊断18例,人工流产7例。除眼部畸形外,伴有至少一种畸形的81例患者(53.8%)中最常见的畸形类型是畸形足、小头畸形、脑积水、唇腭裂和面部畸形。出生时患有眼睛畸形和其他畸形的婴儿比对照组更小,体重更轻,头围也更低。胎盘重量也低于对照组。眼畸形妊娠多并发先兆流产、羊水过少和羊水过多。患有先天性眼睛畸形儿童的母亲在怀孕期间服用药物的频率高于对照组的母亲。先天性眼畸形儿童的父亲比正常儿童的父亲更容易受到职业危害。眼睛畸形与父母的血缘关系有显著的相关性。先证者一级亲属的复发风险为8.9%。先证者一级亲属的非眼部畸形患病率是对照组的三倍以上。这些结果与遗传咨询相关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Congenital eye malformations in 212,479 consecutive births.

Congenital eye malformations were studied in a small geographical area in 212,479 consecutive births. For each of the 145 new cases studied during the period 1979 to 1994, more than 50 factors were compared in probands and in controls. The prevalence rate of congenital eye malformations was 6.8 per 10,000 for microphthalmia 1.7, anophthalmia 0.23, cataract 2.7 and coloboma 1.4 respectively. Sex ratio was 0.82. Prenatal diagnosis was performed in 18 cases and 7 cases were induced abortions. The more common types of associated malformations in the 81 affected cases (53.8%) with at least one anomaly other than an eye malformation were clubfeet, microcephaly, hydrocephaly, cleft lip/palate and facial dysmorphia. At birth infants with eye malformations and other malformations were smaller, weighted less and their head circumference was lower than in controls. Placental weight was also lower than in controls. Pregnancies with eye malformations were more often complicated by threatened abortion, oligoamnios and polyhydramnios. Mothers of children with congenital eye malformations took more often drugs during pregnancy than mothers of controls. Fathers of children with congenital eye malformations were more often exposed to occupational hazards than fathers of controls. There was a significant association between eye malformations and consanguinity of parents. The recurrence risk for first degree relatives of probands was 8.9%. First degree relatives of probands had more than three times the prevalence of non-eye malformations than controls. These results are of relevance to genetic counseling.

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