Campomelic dysplasia: case report and review

J Perinatol. 2008 Jan;28(1):71-3. doi: 10.1038/sj.jp.7211875.

Abstract

Initial ultrasound of a fetus in the third trimester demonstrated shortened and bent fetal extremities with a narrow and misshapen thorax. These findings were suggestive of a fetus affected with a possible lethal skeletal dysplasia. Decisions regarding antepartum, intrapartum and neonatal care were made in this context. A newborn with campomelic dysplasia was delivered and suffered a rapid downhill course.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Dwarfism / diagnostic imaging*
  • Dwarfism / physiopathology
  • Female
  • Fractures, Bone / diagnostic imaging
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital / diagnostic imaging*
  • Limb Deformities, Congenital / physiopathology
  • Live Birth
  • Male
  • Osteochondrodysplasias / diagnostic imaging*
  • Osteochondrodysplasias / physiopathology
  • Pregnancy
  • Pregnancy Trimester, Third
  • Ultrasonography, Prenatal*