Analysis of deformations in 26,810 consecutive infants with congenital defects

Am J Med Genet. 1999 Jun 4;84(4):365-8. doi: 10.1002/(sici)1096-8628(19990604)84:4<365::aid-ajmg11>3.0.co;2-9.

Abstract

Here we present the analysis of deformations observed in a series of 26,810 consecutive infants with congenital defects. We observed that 3.88% of these infants had deformations, for a prevalence figure of 0.07% live-born infants. From the present study we can conclude that there are three different types of deformation sequences: one with polyhydramnios, thin skin without dermal ridges, hypotonia, and multiple deformations (hypokinesia sequence), which is most often due to intrinsic problems; another with oligohydramnios, redundant thick skin, and multiple deformations, which can be produced by intrinsic or extrinsic factors; and the third, with normal amniotic fluid volume, which is due to compression of different causes. Deformations of extrinsic cause are more frequently isolated defects and have a better prognosis, while deformations of intrinsic origin are more frequently associated with other congenital anomalies and, generally, have a poor prognosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Congenital Abnormalities / epidemiology*
  • Humans
  • Infant
  • Prevalence
  • Spain / epidemiology