One-year-old infant with hepatosplenomegaly and developmental delay

Am J Med Genet. 1987 Oct;28(2):411-31. doi: 10.1002/ajmg.1320280220.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amniocentesis
  • Developmental Disabilities / etiology*
  • Developmental Disabilities / genetics
  • Female
  • Fetal Diseases / complications
  • Fetal Diseases / genetics
  • Hepatomegaly / etiology*
  • Humans
  • Hypertelorism
  • Infant
  • Liver / ultrastructure
  • Lung / pathology
  • Male
  • Niemann-Pick Diseases / complications
  • Niemann-Pick Diseases / genetics*
  • Osteoporosis / diagnostic imaging
  • Pregnancy
  • Radiography
  • Splenomegaly / etiology*