Prenatal diagnosis of Juberg–Hayward syndrome

Juberg–Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg–Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg–Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd.     

Split notochord syndrome variant: prenatal findings and neonatal management

Spilt notochord syndrome is an extremely rare form of spinal dysraphism characterized by a complete cleft of the spine and a persistent communication between endoderm and ectoderm. A variant of split notochord syndrome was diagnosed in a 25-week-old fetus showing a prolapsed congenital colostomy and a spinal cystic lesion. The final diagnosis included protruding colon segment, imperforate anus with a rectourethral fistula and lipomyelomeningocele. The ultrasound features of the condition and the post-natal management are discussed. The neonate was successfully treated with a posterior sagittal anorectoplasty, while the lipomyelomeningocele was resected at a later stage. Copyright © 2005 John Wiley & Sons, Ltd.     

吉林延吉八道金矿构造控矿模式

八道金矿为延吉中生代火山岩型金矿中较为典型的矿床之一。其矿床成因，除与火山作用有关之外直接受构造的控制，而火山作用本身又与区域深大断裂有关。本文着重讨论了矿区火山岩与朝阳河断裂的关系及构造控矿模式。     

政和—大埔断裂带基本特征及其演化模式

政和—大埔断裂带经历多期复杂的构造变形变质作用,不同地段的时空演化特征有所差异,总体上可划分为四个演化阶段。即:①前加里东期(?)—加里东期韧性剪切变形变质作用(D_1),发生于中、下地壳,是顺层剪切(固态流变)的结果,为纯韧性变形,②印支期韧性剪切变形变质作用(D_2)——政和—大埔断裂的形成,以平移型剪切为主,形成S——C糜棱岩,为半韧性变形环境;③印支末期—燕山早期逆冲—推覆作用(D_3),为多层次逆冲推覆,东部所谓的“天窗”部分为这一时期逆冲岩片的残留体,随着早燕山期花岗岩的侵入逐渐过渡到伸展拆离环境,同时西部推覆体后缘出现拉张,形成有限的火山岩盆地,为半脆性—脆性变形环境;④燕山期(—喜山期)伸展—拆离作用(D_4),在相对年轻的拆离断层之下出露变质核杂岩(如稻香组和熊山岩体),并形成裂陷盆地堆积(梨山组),东部部分“天窗”属这类成因,形成环境跨度大,为半韧性→半脆性→脆性。     

黔中九架炉、祥摆、旧司组特征及其地质意义──以乌当地区为例

在贵阳乌当断层南北两侧 ,下石炭统九架炉组、祥摆组和旧司组的分布和沉积特征存在明显的变化。九架炉组基本分布于乌当断层北西侧 ,祥摆组由北向南的沉积环境向浅海相呈有规律的变化 ,旧司组则仅在乌当断层南侧分布。这些地层的分布规律、沉积环境的变化说明了乌当断层为黔中隆起南侧边缘断层 ,且该断层自早古生代形成后 ,为一多期次活动断层。     

寻找紧缺的银矿资源——地质工作者的急迫使命

由于近二十年来全世界工业的快速发展 ,银的用途益发广泛 ,白银需求量迅猛增加 ,它不仅是我国紧缺的矿产资源 ,而且已成为世界市场上的走俏商品 ,全世界已连续九年需大于供 ,九年累计缺银 1 0亿盎司 ,并且缺口越来越大。专家们预测 :到 1 998年底全世界库存的银锭消耗殆尽。我国前几年有 1 / 2 -1 / 3的白银靠进口 ,1 997年还进口白银 1 55吨。因而 ,银价剧烈上扬 ,从 1 996年的 4美元 /盎司 ,涨到 1 998年 2月份的 7.81美元 /盎司。与白银相反 ,近两年黄金供远过于求 ,1 997年全世界多出 3 93吨 ,故金价急剧下跌 ,从 1 996年的 3 87.87美元 /盎司 ,降到 1 998年 6月份的 2 87.9美元/盎司。由于银需求量增大 ,加之有色金属工业的不景气 ,银产量不仅不能增长 ,而且反而下降。因而人们提出寻找能根据需要而生产的、具有独立开采价值的银矿床 ,即独立银矿床。全世界有三大巨型成矿带 ,我国有四大银成矿区。这些成矿区带的核心是火山 -岩浆活动带。银成矿区带都受巨型或区域深大断裂带控制 ,独立银矿床多产于区域深大断裂带旁侧的次级断层交汇处或附近。独立银矿床的直接围岩可以是火成岩、沉积岩和变质岩 ,但是它们位于火山岩浆活动带中 ,而且以火山岩为主。     

Exencephaly in autosomal dominant brachydactyly syndrome

Exencephaly was diagnosed at 17 weeks in a 27-year-old primigravida with abnormalities of the hands and a family history suggestive of autosomal dominant brachydactyly and clinodactyly. In this family there was also a history of ‘anencephaly’. To our knowledge, this is the first report on the association of exencephaly and autosomal dominant brachydactyly. As the relationship between hand and cranial anomalies is well established, we suggest that this association in our case could be due to a defect in the same gene.     

Triploid fetus: An important consideration in the evaluation of very high maternal serum alpha-fetoprotein

Two patients referred for evaluation of very high maternal serum alpha-fetoprotein (10–20 multiples of the median) were carrying triploid fetuses with placentas showing features of partial hydatidiform mole. The diagnosis of fetal triploidy should be considered when there is a very high maternal serum alpha-fetoprotein and no ultrasound evidence of open neural tube defect, ventral wall defect, or any other explanation. Therefore, chromosomal analysis of amniotic fluid cells in such cases is essential.     

Prenatal diagnosis of pericentric inversion of chromosome no. 17 in a twin pregnancy

Although prenatal genetic diagnosis can usually provide prospective parents with information as to whether their fetus is affected with certain genetic conditions, the presence of twins and the uncertainty about the phenotype of some chromosome variations pose a major dilemma and make genetic counselling very difficult. Here, a case report of an unusual chromosome aberration (pericentric inversion of chromosome no. 17) in a twin pregnancy which was originally suspected to be monoamniotic but later proved to have two sacs was presented.