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.
Department of Human Genetics, University of Cape Town Medical School, South Africa.
I
I
Winship
B
B
Cremin
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P
Beighton
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