Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: Bent but not broken

Richard M. Pauli, Peggy Modaff, Susan L. Sipes, Michael P. Whyte

Research output: Contribution to journalArticlepeer-review

68 Scopus citations

Abstract

We describe a fifth instance of hypophosphatasia presenting with prenatal findings suggestive of a very severe bone dysplasia but with a subsequently benign course. Spontaneous improvement of long-bone angulation began prenatally. The postnatal course has been encouraging. This sixth clinical form of hypophosphatasia, which we suggest should be called the benign prenatal form of hypophosphatasia, should be added to the differential diagnostic possibilities considered when angulation or bowing of long bones is discovered prenatally.

Original languageEnglish
Pages (from-to)434-438
Number of pages5
JournalAmerican journal of medical genetics
Volume86
Issue number5
DOIs
StatePublished - Oct 29 1999

Keywords

  • Alkaline phosphatase
  • Bone disease
  • Bowing
  • Campomelic dysplasia
  • Prenatal diagnosis

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