Mild autosomal dominant hypophosphatasia: In utero presentation in two families

Cynthia A. Moore, Cynthia J.R. Curry, Paula S. Henthorn, John A. Smith, J. Charles Smith, Patricia O'Lague, Stephen P. Coburn, David D. Weaver, Michael P. Whyte

Research output: Contribution to journalArticlepeer-review

49 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)410-415
Number of pages6
JournalAmerican journal of medical genetics
Volume86
Issue number5
DOIs
StatePublished - Oct 29 1999

Keywords

  • Alkaline phosphatase
  • Hypophosphatasia
  • Metabolic bone disease
  • Rickets

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