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肢体-体壁复合畸形:病例系列

Limb-body wall complex: a case series.

作者信息

Luehr B, Lipsett J, Quinlivan J A

机构信息

Department of Obstetrics and Gynaecology, Flinders Medical Centre, Adelaide, Australia.

出版信息

J Matern Fetal Neonatal Med. 2002 Aug;12(2):132-7. doi: 10.1080/jmf.12.2.132.137.

Abstract

OBJECTIVE

Limb-body wall complex (LBWC) is a rare fetal polymalformation of uncertain etiology, but it has been regarded as sporadic in nature with a low recurrence risk. We review a case series in light of recent evidence about possible genetic and environmental associations.

METHODS

All abortions or births coded as limb-body wall defect or fetal acrania/exencephaly or with unclassified polymalformation between January 1996 and January 2001 were audited.

RESULTS

During the 5-year period there were 33,286 live births in our region. Eleven cases met the criteria of LBWC giving an incidence of 0.33/1000 live births. In 50%, 50% and 30% of women a history of cigarette, alcohol and marijuana use, respectively, was noted. Furthermore, 40% of the women had a history of a previous infant with a congenital anomaly. One patient delivered two consecutive male infants with LBWC.

CONCLUSIONS

Whilst the majority of cases of LBWC are sporadic, some women may have an underlying genetic predisposition. It may be prudent to advise against the use of alcohol, cigarettes and other drugs and to offer an ultrasound scan in a tertiary referral center in a subsequent pregnancy.

摘要

目的

肢体-体壁综合征(LBWC)是一种病因不明的罕见胎儿多发畸形,但一直被认为本质上是散发性的,复发风险较低。我们根据最近关于可能的遗传和环境关联的证据回顾了一组病例。

方法

对1996年1月至2001年1月间所有编码为肢体-体壁缺陷、胎儿无脑/脑膨出或未分类多发畸形的流产或出生病例进行审核。

结果

在这5年期间,我们地区有33286例活产。11例符合LBWC标准,活产发病率为0.33/1000。分别有50%、50%和30%的女性有吸烟、饮酒和使用大麻史。此外,40%的女性有过先天性异常婴儿的病史。一名患者连续分娩了两名患有LBWC的男婴。

结论

虽然大多数LBWC病例是散发性的,但一些女性可能有潜在的遗传易感性。建议在后续妊娠中避免饮酒、吸烟和使用其他药物,并在三级转诊中心进行超声检查可能是谨慎的做法。

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