Spondylometaphyseal dysplasia in two sibs of normal parents.
Two sibs with identical features of short-limbed dwarfism, a normal skull and face and normal intelligence are described. On the basis of the radiological and clinical characteristics the condition must be included within the group of spondylometaphyseal dysplasias. In contrast to the familial cases described up to now in which the mode of inheritance was autosomal dominant, the trait in the two children described here was transmitted as an autosomal recessive.
D000130:Achondroplasia / Q000175:diagnosis; D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D010375:Pedigree; D011859:Radiography