Stoll C, Calzolari E, Cornel M, Garcia-Minaur S, Garne E, Nevin N, Ten Kate L
Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France.
Ann Genet. 1996;39(2):99-104.
Limb reduction defects (LRD) gained special attention after the thalidomide tragedy in 1962. LRD are common congenital malformations which present as obvious congenital anomalies recognized at birth. Therefore it might be assumed that they are well documented. However classification of LRDs is disputed as the identification of the exact site of the reduction(s) is hindered by imprecise information. This study was undertaken in 6 European countries to evaluate the use of the new classification proposed by EUROCAT for the epidemiologic and genetic study of LRD. The total number of births including livebirths, still-births and terminations, surveyed during 7 years by the 6 registries of congenital anomalies participating to this study was 611.150. The total prevalence of LRD was 7.06 per 10.000 births including the following categories prevalence : terminal transverse, 3.97, longitudinal, 1.75, proximal-intercalary, 0.10, split hand/foot 0.54 and multiple types 0.70. The prevalence of LRD was statistically higher in Basque Country, Odense, Strasbourg and Groningen than in Belfast and Emilia Romagna. Six per cent of the cases were chromosomal anomalies, including 15 trisomies 18 out of 26 cases, 49.5% (201 cases) were isolated LRD and 50.5% (206 cases) had other major non LRD associated malformations. Sex ratio and maternal age were not statistically different between regions and from the normal population. Multiply malformed with LRD had statistically significantly lower birthweight and lower gestational age than isolated cases with LRD, where available prenatal detection of LRD was higher in multiple malformed children with LRD than in isolated cases, 19.9% and 4.8% respectively. The precurrence risk was 1 in 37.
1962年沙利度胺悲剧发生后，肢体减少缺陷（LRD）受到了特别关注。LRD是常见的先天性畸形，表现为出生时即可识别的明显先天性异常。因此，可能会认为它们有充分的记录。然而，LRD的分类存在争议，因为减少部位的确切位置难以确定，相关信息不准确。本研究在6个欧洲国家开展，旨在评估欧洲先天性异常监测网络（EUROCAT）提出的新分类在LRD流行病学和遗传学研究中的应用。参与本研究的6个先天性异常登记处对7年期间调查的出生总数（包括活产、死产和终止妊娠）进行了统计，共计611150例。LRD的总患病率为每10000例出生中有7.06例，包括以下类别患病率：末端横向，3.97；纵向，1.75；近端间插，0.10；裂手/裂足，0.54；多种类型，0.70。巴斯克地区、欧登塞、斯特拉斯堡和格罗宁根的LRD患病率在统计学上高于贝尔法斯特和艾米利亚-罗马涅。6%的病例存在染色体异常，其中26例中有15例为18三体，49.5%（201例）为孤立性LRD，50.5%（206例）伴有其他主要非LRD相关畸形。各地区之间以及与正常人群相比，性别比例和母亲年龄在统计学上无差异。与孤立性LRD病例相比，伴有LRD的多发畸形患儿出生体重和孕周在统计学上显著更低，在伴有LRD的多发畸形患儿中，可获得的产前LRD检测率高于孤立性病例，分别为19.9%和4.8%。复发风险为1/37。
