Patterns of combined limb malformations

Teratology. 1977 Oct;16(2):203-9. doi: 10.1002/tera.1420160215.

Abstract

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.

Publication types

  • Comparative Study

MeSH terms

  • Abnormalities, Multiple* / epidemiology
  • Abnormalities, Multiple* / genetics
  • Arm / abnormalities*
  • Congenital Abnormalities / classification
  • Congenital Abnormalities / epidemiology
  • Congenital Abnormalities / genetics
  • Ectromelia / epidemiology
  • Ectromelia / genetics
  • Female
  • Fingers / abnormalities
  • Humans
  • Infant, Newborn
  • Leg / abnormalities*
  • Male
  • Sex Ratio
  • South America
  • Syndactyly / epidemiology
  • Syndactyly / genetics