Mastroiacovo P, Källén B, Knudsen L B, Lancaster P A, Castilla E E, Mutchinick O, Robert E
IPIMC, Servizio Epidemiologia e Clinica Difetti Congeniti, Rome, Italy.
Teratology. 1992 Nov;46(5):455-64. doi: 10.1002/tera.1420460510.
The study is based on almost 10 million births and reports on 215 infants with two unusual malformations: amelia and gross body wall defect. Amelia without body wall defect was present in 116 cases, 67 had body wall defects without amelia, and 32 had both. The total rate was 2.2 per 100,000 births. The infants were divided into five mutually exclusive groups. There were 40 infants (0.4 per 100,000) with agenesis of the body stalk, 18 with amelia and other types of gross body wall defects (0.2 per 100,000), 56 with amelia and malformations other than gross body wall defects (0.6 per 100,000), 41 with amelia (with or without other limb reduction defects) but no nonlimb malformations (0.4 per 100,000), and 60 infants with gross body wall defects of a type other than agenesis of body stalk and without amelia (0.6 per 100,000). A weak trend of decreasing prevalence of these malformations was found during the observation period. Infants with agenesis of the body stalk and infants with amelia combined with other types of gross body wall defects occurred at an increased rate in infants of young women. This maternal age effect is also found with gastroschisis, but not with omphalocele, and may indicate etiological or pathogenetic similarities between gastroschisis and the two former groups of defect. In infants with amelia, additional limb reduction defects could be of any type: transverse, longitudinal, or intercalary. Therefore, amelia may be the end result of different types of disturbances of limb morphogenesis. There was an increased rate of twinning. The relationship with amniotic band syndrome is discussed.
该研究基于近1000万例出生病例，报告了215例患有两种罕见畸形的婴儿：无肢畸形和严重体壁缺损。116例为无体壁缺损的无肢畸形，67例为无无肢畸形的体壁缺损，32例两者皆有。总发生率为每10万例出生2.2例。这些婴儿被分为五个相互排斥的组。有40例（每10万例0.4例）体蒂发育不全的婴儿，18例有无肢畸形和其他类型严重体壁缺损的婴儿（每10万例0.2例），56例有无肢畸形且无严重体壁缺损以外其他畸形的婴儿（每10万例0.6例），41例有无肢畸形（有或无其他肢体减少缺陷）但无非肢体畸形的婴儿（每10万例0.4例），以及60例有非体蒂发育不全类型且无无肢畸形的严重体壁缺损的婴儿（每10万例0.6例）。在观察期内发现这些畸形的患病率有微弱的下降趋势。体蒂发育不全的婴儿以及无肢畸形合并其他类型严重体壁缺损的婴儿在年轻女性所生婴儿中的发生率有所增加。这种母亲年龄效应在腹裂中也有发现，但在脐膨出中未发现，这可能表明腹裂与前两组缺陷在病因或发病机制上存在相似性。在无肢畸形的婴儿中，额外的肢体减少缺陷可以是任何类型：横向、纵向或间插型。因此，无肢畸形可能是肢体形态发生不同类型干扰的最终结果。双胎妊娠率有所增加。文中讨论了与羊膜带综合征的关系。
