Sonographic features of lethal multiple pterygium syndrome at 14 weeks

Prenat Diagn. 2005 Jun;25(6):475-8. doi: 10.1002/pd.1166.

Abstract

Lethal multiple pterygium syndrome is a rare inherited disorder. Previous reports suggest that the diagnosis may be based on prenatal sonographic demonstration of severe limb flexion, absence of fetal motion, and a large cystic hygroma in the second and third trimesters. We present the sonographic features and postmortem features of a fetus with lethal multiple pterygium syndrome at 13 weeks of gestation, which shows that the condition can possibly be diagnosed in the first trimester of pregnancy.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Abnormalities, Multiple / pathology
  • Adult
  • Ascites / diagnostic imaging
  • Edema / diagnostic imaging
  • Female
  • Fetal Movement
  • Gestational Age*
  • Humans
  • Lymphangioma, Cystic / diagnostic imaging
  • Pregnancy
  • Syndrome
  • Ultrasonography, Prenatal*