[Chondrodysplasia punctata associated with Down's syndrome. Presentation of a case and review of the literature]

An Esp Pediatr. 1988 Feb;28(2):145-7.
[Article in Spanish]

Abstract

A case of chromosomic aberration and chondrodysplasia punctata is presented. Nine similar have been previously reported being this case first described in Spain. Hypothesis arouse from these observations suggest that they are different entities but also permit to include bone alterations among chromosomic aberration signs.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Chondrodysplasia Punctata / complications*
  • Chondrodysplasia Punctata / epidemiology
  • Down Syndrome / complications*
  • Down Syndrome / epidemiology
  • Humans
  • Infant, Newborn
  • Male
  • Phenotype
  • Spain