Hereditary costovertebral dysplasia with malignant cerebral tumour.
Costovertebral dysplasia comprises multiple malformations of the vertebrae and ribs, with a characteristic clinical picture of short trunk dwarfism, short neck, scoliosis, and rib cage deformity. We describe two sibs with the syndrome who are presumed to represent the autosomal recessive form of the disorder. One sib died from a malignant cerebral tumour and the association may be more than fortuitous.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001932:Brain Neoplasms / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics; D006801:Humans; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*