Boomerang dysplasia

Am J Med Genet. 1990 Aug;36(4):440-3. doi: 10.1002/ajmg.1320360413.


Boomerang dysplasia is a recently delineated form of neonatally lethal dwarfism. A fourth case has been investigated and an increased range of phenotypic manifestations is documented in this article. So far all affected infants have been males and X-linked recessive inheritance is possible. Diagnostic criteria for Boomerang dysplasia are outlined.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Dwarfism / diagnosis*
  • Dwarfism / diagnostic imaging
  • Dwarfism / genetics
  • Genes, Recessive
  • Genetic Linkage
  • Humans
  • Infant, Newborn
  • Male
  • Phenotype
  • Radiography
  • X Chromosome