Boomerang dysplasia.
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.
Winship
I
I
Department of Human Genetics, University of Cape Town Medical School, South Africa.
Cremin
B
B
Beighton
P
P
D004392:Dwarfism / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011859:Radiography; D014960:X Chromosome