Castilla E E, Frias M L, Paz J E
Teratology. 1977 Oct;16(2):203-9. doi: 10.1002/tera.1420160215.
Seven different limb malformations types were defined in 544 affected newborns, apparently free from other anomalies, obtained from a series of 297,299 livebirths. These seven malformation types were: polydactyly, limb reduction, brachydactyly, symphalangy, syndactyly and split hand/foot. One anomaly type was present in 472 newborns (1.58/1,000) and two or three in 72 (0.24/1,000). The observed combinations of two or three limb malformation types cannot be explained as chance association. Therefore, a common etiopathogenic mechanism has to be considered when two or more limb malformation types are combined in a given individual. The most frequent observed combinations were: reduction-brachydactyly, reduction-syndactyly, brachydactyly-syndactyly, polydactyly-syndactyly, and reduction-brachydactyly-syndactyly. Based on affected limb distribution, sex ratio, and familial recurrence rates, it is suggest that a reduction anomaly is the primary component in all tested combinations while syndactyly tends to be a secondary one when combined with any other limb anomaly type.
在从297,299例活产儿中选取的544例明显无其他异常的患病新生儿中，定义了七种不同类型的肢体畸形。这七种畸形类型为：多指（趾）畸形、肢体短小畸形、短指（趾）畸形、关节融合畸形、并指（趾）畸形和裂手（足）畸形。472例新生儿（1.58/1000）存在一种畸形类型，72例（0.24/1000）存在两种或三种畸形类型。观察到的两种或三种肢体畸形类型的组合不能解释为偶然关联。因此，当给定个体中合并两种或更多种肢体畸形类型时，必须考虑共同的病因发病机制。最常见的观察到的组合为：肢体短小畸形-短指（趾）畸形、肢体短小畸形-并指（趾）畸形、短指（趾）畸形-并指（趾）畸形、多指（趾）畸形-并指（趾）畸形以及肢体短小畸形-短指（趾）畸形-并指（趾）畸形。基于受累肢体分布、性别比例和家族复发率，提示在所有测试组合中，肢体短小畸形是主要成分，而并指（趾）畸形与任何其他肢体畸形类型合并时往往是次要成分。
