Prenatal diagnosis of Fryns' syndrome

Prenat Diagn. 1992 Apr;12(4):299-303. doi: 10.1002/pd.1970120410.

Abstract

We report on a new case of ultrasonographic prenatal diagnosis of Fryns' syndrome during the second pregnancy of a young woman whose first child died 90 min after birth and was diagnosed as having this autosomal recessive condition. The feasibility of diagnosis in utero and timing in the phenotypic expression of this multimalformation syndrome are discussed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Adult
  • Diaphragm / abnormalities*
  • Diaphragm / diagnostic imaging
  • Female
  • Gestational Age
  • Humans
  • Pregnancy
  • Prenatal Diagnosis
  • Syndrome
  • Ultrasonography