Mild autosomal dominant hypophosphatasia: in utero presentation in two families

Am J Med Genet. 1999 Oct 29;86(5):410-5. doi: 10.1002/(sici)1096-8628(19991029)86:5<410::aid-ajmg3>;2-0.


We describe four pregnancies in two families in which mild hypophosphatasia, apparently transmitted as an autosomal dominant trait, manifested in utero as severe long bone bowing. Postnatally, there was spontaneous improvement of the skeletal defects. Recognition of this presentation for hypophosphatasia by family investigation and assessment of the fetal skeleton for degree of ossification and chest size using ultrasonography is important. The prognosis for this condition is considerably better than for more severe forms of hypophosphatasia and for many other disorders that cause skeletal defects with long bone bowing in utero.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child, Preschool
  • Female
  • Genes, Dominant
  • Humans
  • Hypophosphatasia / embryology*
  • Hypophosphatasia / genetics*
  • Hypophosphatasia / physiopathology
  • Infant
  • Male
  • Ossification, Heterotopic / diagnostic imaging
  • Ossification, Heterotopic / embryology
  • Ossification, Heterotopic / genetics
  • Pedigree
  • Pregnancy
  • Ultrasonography, Prenatal