Recessive spondylocostal dysostosis: two new cases.
Two sisters with spondylocastal dysostosis are presented. Clinical findings are: short neck, short trunk, decreased upper to lower segment ratio, vertebral and costal malformations and normal intelligence. Both the clinical aspects and the family history are suggestive of the autosomal recessive form of the disease.
D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D009999:Ossification, Heterotopic; D011859:Radiography; D012272:Ribs / Q000000981:diagnostic imaging; D013122:Spinal Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D013131:Spine / Q000000981:diagnostic imaging