Prenatal diagnosis of boomerang dysplasia

Am J Med Genet A. 2003 Oct 1;122A(2):148-54. doi: 10.1002/ajmg.a.20239.

Abstract

Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound.

Publication types

  • Case Reports

MeSH terms

  • Bone Diseases, Developmental / diagnostic imaging*
  • Bone Diseases, Developmental / pathology
  • Female
  • Fetal Death
  • Genes, Lethal
  • Gestational Age
  • Humans
  • Pregnancy
  • Prenatal Diagnosis*
  • Radiography
  • Ultrasonography, Prenatal