Specific ultrasonographic features of perinatal lethal hypophosphatasia

Am J Med Genet A. 2008 May 1;146A(9):1200-4. doi: 10.1002/ajmg.a.32202.

Abstract

Prenatal diagnosis of perinatal lethal hypophosphatasia (PL-HPH) by ultrasonography is difficult as PL-HPH must be differentiated from other skeletal dysplasias with short long bones and poor mineralization of the skeleton, such as osteogenesis imperfecta type II and achondrogenesis/hypochondrogenesis. Here we present a case of molecularly confirmed PL-HPH and illustrate specific ultrasonographic findings that help to distinguish PL-HPH from similar conditions.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alkaline Phosphatase / genetics
  • Diagnosis, Differential
  • Female
  • Genes, Lethal
  • Gestational Age
  • Heterozygote
  • Humans
  • Hypophosphatasia / diagnosis
  • Hypophosphatasia / diagnostic imaging*
  • Hypophosphatasia / enzymology
  • Hypophosphatasia / genetics*
  • Male
  • Mutation
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / diagnostic imaging*
  • Osteochondrodysplasias / enzymology
  • Osteochondrodysplasias / genetics
  • Parents
  • Pregnancy
  • Ultrasonography, Prenatal

Substances

  • Alkaline Phosphatase