意大利艾米利亚-罗马涅地区的肢体减少缺陷：对173,109例连续出生病例的流行病学和遗传学研究
Limb reduction defects in Emilia Romagna, Italy: epidemiological and genetic study in 173,109 consecutive births.
作者信息
Calzolari E, Manservigi D, Garani G P, Cocchi G, Magnani C, Milan M
机构信息
Istituto di Genetica Medica, University of Ferrara, Italy.
出版信息
J Med Genet. 1990 Jun;27(6):353-7. doi: 10.1136/jmg.27.6.353.
Abstract
Epidemiological and genetic variables in limb reduction defects (LRD) were analysed during the years 1978 to 1987 in a case control study in Emilia Romagna, northern Italy. During the observation period, 83 neonates out of 173,109 consecutive births had LRD (4.8 per 10,000). Cases were divided into five subgroups: transverse, intercalary, longitudinal, split, and multiple types of LRD. Of all cases, 64% were upper limb, 21% lower limb, and 15% both. Coexisting non-limb malformations were found in 10 cases (12%), five with recognised syndromes and five with other associated defects. About 7.2% of first degree relatives had defects involving the skeletal system. In two cases the mother had the same type of LRD (a split). No recurrence among sibs was observed. Risk factors correlated with LRD were found to be low birth weight (2500 g or less), vaginal bleeding, and threatened abortion.
摘要
1978年至1987年期间，在意大利北部艾米利亚 - 罗马涅进行了一项病例对照研究，分析了肢体减少缺陷（LRD）的流行病学和遗传变量。在观察期内，173109例连续出生的新生儿中有83例患有LRD（每10000例中有4.8例）。病例分为五个亚组：横向、间插、纵向、分裂和多种类型的LRD。在所有病例中，64%为上肢，21%为下肢，15%为上下肢均受累。10例（12%）存在合并的非肢体畸形，其中5例患有公认的综合征，5例有其他相关缺陷。约7.2%的一级亲属有涉及骨骼系统的缺陷。有两例母亲患有相同类型的LRD（分裂型）。未观察到同胞之间的复发情况。发现与LRD相关的危险因素为低出生体重（2500克或更低）、阴道出血和先兆流产。
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