Autosomal dominant craniometaphyseal dysplasia. Clinical variability.
The autosomal dominant form of craniometaphyseal dysplasia was ascertained in three members of a Mexican family. The clinical and radiological features of the affected members are described and the variability of the condition is emphasized. The proband has striking cranial changes, but moderate long bone abnormalities; the father and the sister, who had mild cranial changes, showed the characteristic metaphyseal widening.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008800:Mexico; D010375:Pedigree; D011859:Radiography