Langer mesomelic dwarfism: ultrasonographic diagnosis of two cases in early mid-trimester

Prenat Diagn. 1996 Mar;16(3):247-51. doi: 10.1002/(SICI)1097-0223(199603)16:3<247::AID-PD835>3.0.CO;2-5.

Abstract

This is a report on two cases of mesomelic dysplasia Langer type. This is a rare kind of dwarfism which combines severe dwarfism with predominant shortening of the forearms and lower legs and other morphological abnormalities. The diagnosis can be made by ultrasonography in the early second trimester of the pregnancy.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Abnormalities, Multiple / genetics
  • Adult
  • Consanguinity
  • Dwarfism / diagnostic imaging*
  • Dwarfism / genetics
  • Extremities / diagnostic imaging
  • Female
  • Fetal Diseases / diagnostic imaging*
  • Fetal Diseases / genetics
  • Genetic Counseling
  • Humans
  • Male
  • Pedigree
  • Pregnancy
  • Pregnancy Trimester, Third
  • Radiography
  • Ultrasonography, Prenatal / methods*