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Boomerang dysplasia
I Winship1, B Cremin, P Beighton
1Department of Human Genetics, University of Cape Town Medical School, South Africa.
American Journal of Medical Genetics
|August 1, 1990
Abstract:
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.