Roberts syndrome and SC phocomelia. A single genetic entity.
A family with three siblings showing different manifestations of Roberts syndrome or SC phocomelia is described. With regard to previously published cases of familial Roberts syndrome and SC phocomelia we conclude that these two syndromes are one and the same genetic entity.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D004480:Ectromelia / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D013577:Syndrome