Camptomelic dwarfism associated with XY-gonadal dysgenesis and chromosome anomalies

Clin Genet. 1978 Jun;13(6):489-99. doi: 10.1111/j.1399-0004.1978.tb01204.x.

Abstract

We have studied two female newborns with comptomelic dwarfism, XY-gonadal dysgenesis and chromosome anomalies. The preponderance of "females" among the hitherto reported cases of this allegedly autosomal recessive form of lethal drawfism may be due to an increased incidence of an associated XY-gonadal dysgenesis.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Aberrations
  • Dwarfism / genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Ovary / pathology
  • Sex Chromosome Aberrations*
  • Turner Syndrome / genetics*
  • Turner Syndrome / pathology
  • Y Chromosome