Prenatal ultrasound findings in a fetus diagnosed with Gaucher's disease (type 2) at birth

Prenat Diagn. 1997 Aug;17(8):765-9. doi: 10.1002/(sici)1097-0223(199708)17:8<765::aid-pd122>3.0.co;2-3.

Abstract

A 26-year-old woman with no significant history was found to have a fetus with hepatosplenomegaly and neurological abnormalities in utero on ultrasound. The baby was found to have a severe clinical manifestation of type 2 Gaucher's disease.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Fetal Diseases / diagnostic imaging
  • Gaucher Disease / diagnosis
  • Gaucher Disease / diagnostic imaging*
  • Hepatomegaly / diagnostic imaging
  • Humans
  • Pregnancy
  • Splenomegaly / diagnostic imaging
  • Ultrasonography, Prenatal*
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