Prenatal diagnosis of autosomal recessive osteopetrosis, infantile type, by X-ray evaluation

Prenat Diagn. 1995 May;15(5):477-81. doi: 10.1002/pd.1970150512.


Prenatal diagnosis for infantile osteopetrosis was attempted during the third pregnancy of a first-cousin marriage whose family history revealed an affected previous child. At the 25th week of pregnancy, fetal X-ray evaluation revealed marked sclerosis of osteopetrotic bone and metaphyseal splaying and clubbing of both femurs. The pregnancy was terminated and repeated X-rays and histopathological examination of fetal bone (femur) confirmed the diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Induced
  • Consanguinity
  • Female
  • Femur / pathology
  • Fetal Diseases / diagnostic imaging
  • Humans
  • Male
  • Osteopetrosis / diagnostic imaging*
  • Osteopetrosis / pathology
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis*
  • Radiography