Prenatal diagnosis of lethal osteogenesis imperfecta in twin pregnancy

Clin Genet. 1991 Jun;39(6):467-70. doi: 10.1111/j.1399-0004.1991.tb03059.x.

Abstract

Lethal osteogenesis imperfecta was diagnosed at 27 weeks amenorrea in one fetus of a bichorial twin pregnancy. Sonographic findings included: short-limb dwarfism, hypotrophy and hypoechoic bones. The affected fetus was so translucent that only the normal fetus could be seen on plain in utero radiography. The affected fetus died immediately after birth. Postmortem radiography and histology were typical of lethal osteogenesis imperfecta of type IIA. Aids to the etiological diagnosis of in utero dwarfism are presented. Sonographic features correlated with neonatal death are described.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Female
  • Fetal Diseases / diagnostic imaging*
  • Fetal Diseases / pathology
  • Humans
  • Infant, Newborn
  • Osteogenesis Imperfecta / diagnostic imaging*
  • Osteogenesis Imperfecta / pathology
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Radiography
  • Twins*
  • Ultrasonography, Prenatal