2. Academic Validation
  3. Prenatal diagnosis of boomerang dysplasia

Prenatal diagnosis of boomerang dysplasia

  • Am J Med Genet A. 2003 Oct 1;122A(2):148-54. doi: 10.1002/ajmg.a.20239.
Marja W Wessels 1,  Nicolette S Den Hollander,  Ronald R De Krijger,  Luisa Bonifé,  Andrea Superti-Furga,  Peter G Nikkels,  Patrick J Willems
Affiliations

Affiliation

  • 1 Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands. [email protected]
PMID: 12955767 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.

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