title: Heritable syndrome of skeletal defects in a family of Australian shepherd dogs.
abstract: A syndrome of multiple defects including cleft palate, polydactyly, and often syndactyly, shortened tibia-fibula, brachygnathism and scoliosis lethal to males is described in a family of Australian shepherd dogs. Female pups lack the cleft palate and survive, but may exhibit the other defects to a lesser degree than do males. Litter data suggest that the trait is inherited as an X-linked lethal gene, but the possibility of a sex-influenced autosomal allele cannot be ruled out. The syndrome may have arisen in conjunction with instability of the merle locus.
mesh_terms: D000818:Animals; D001842:Bone and Bones / Q000002:abnormalities*; D000013:Congenital Abnormalities / Q000662:veterinary*; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D005260:Female; D005804:Genes, Lethal; D008297:Male; D012737:Sex Factors