Radiology of the autosomal dominant form of craniometaphyseal dysplasia.
The autosomal dominant variety of craniometaphyseal dysplasia was diagnosed in 8 members of three generations of a White family living in the Cape Province and in Natal. Radiographic investigations of these individuals permitted assessment of the spectrum of involvement and of the age relationship of the abnormalities. Characteristic radiographic features included cranial hyperostosis and sclerosis, in association with metaphyseal splaying. Diagnostic precision in this order permits accurate prognostication and rational genetic counseling.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001132:Arm / Q000000981:diagnostic imaging; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000235:genetics; D003966:Camurati-Engelmann Syndrome / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D002968:Clavicle / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D005260:Female; D005458:Fluoride Poisoning / Q000000981:diagnostic imaging; D005799:Genes, Dominant; D006801:Humans; D007866:Leg / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D010026:Osteosclerosis / Q000000981:diagnostic imaging; D011859:Radiography; D012272:Ribs / Q000000981:diagnostic imaging; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging; D013577:Syndrome