Radiographic features of craniometadiaphyseal dysplasia, wormian bone type.
We describe the radiographic findings in two siblings with a previously unrecognized craniotubular bone dysplasia. We call this condition craniometadiaphyseal dysplasia, wormian bone type. Because the parents of the siblings are consanguineous, this is probably a genetically determined condition with an autosomal recessive type of transmission. The findings in the siblings are compared with those of a woman with the same condition, previously reported as an example of craniometaphyseal dysplasia. The combination of findings in these patients seems diagnostic: characteristic skull changes including multiple wormian bones; wide long tubular bones without normal metaphyseal flaring; wide short tubular bones without normal diaphyseal constriction and sometimes actual diaphyseal expansion; and wide ribs and clavicles.
Langer
L O
LO
Department of Radiology, University of Minnesota Hospital, Minneapolis.
Brill
P W
PW
Afshani
E
E
Williams
C A
CA
Thomas
I T
IT
Frias
J L
JL
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000235:genetics; D001851:Bone Diseases, Metabolic / Q000000981:diagnostic imaging; D002648:Child; D003241:Consanguinity; D005260:Female; D005598:Fractures, Spontaneous / Q000000981:diagnostic imaging; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D011859:Radiography; D012886:Skull / Q000002:abnormalities*