Article
Boomerang dysplasia.
American journal of medical genetics - 1 Aug 1990
Winship I, Cremin B, Beighton P
Abstract excerpt
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.
Topics
- Dwarfism
- Genes, Recessive
- Genetic Linkage
- Humans
- Infant, Newborn
- Male
- Phenotype
- Radiography
- X Chromosome
