Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism

Am J Med Genet. 1988 Dec;31(4):915-20. doi: 10.1002/ajmg.1320310426.

Abstract

In a family at risk for Langer mesomelic dwarfism, we document the onset of disproportionate growth in the second trimester by sonographic biometry. Midtrimester pathologic correlation of this condition demonstrates primary changes in the growthplate in the regions of proliferating cartilage and hypertrophic and degenerative chondrocytes.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Dwarfism / diagnosis*
  • Dwarfism / pathology
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / pathology
  • Genetic Testing
  • Humans
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / pathology
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis*
  • Ultrasonography*
  • Xeroradiography