[Prenatal diagnosis of a case of Fryns' syndrome]

J Gynecol Obstet Biol Reprod (Paris). 1995;24(1):57-62.
[Article in French]

Abstract

Fryns' syndrome was reported for the first time in 1979 in children who died neonatally of prematurity and respiratory distress. This lethal, autosomal recessive syndrome is characterized by a diaphragmatic defect, pulmonary hypoplasia, a "coarse" face and distal limb abnormalities. This report presents a prenatal ultrasonographic diagnosis at 20 weeks' gestation of a case of Fryns' syndrome and defines the frequency of each of its abnormalities from the 38 cases listed in the literature.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Adult
  • Facial Bones / abnormalities*
  • Female
  • Fingers / abnormalities*
  • Hernia, Diaphragmatic / diagnostic imaging*
  • Hernias, Diaphragmatic, Congenital
  • Humans
  • Lung / abnormalities*
  • Pregnancy
  • Pregnancy Trimester, Second
  • Syndrome
  • Ultrasonography, Prenatal*