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 wit...

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Bibliographic Details
Published in:Skeletal radiology 1991, Vol.20 (1), p.37-41
Main Authors: Langer, Jr, L O, Brill, P W, Afshani, E, Williams, C A, Thomas, I T, Frias, J L
Format: Article
Language:English
Subjects:
Bone Diseases, Developmental - diagnostic imaging
Bone Diseases, Developmental - genetics
Bone Diseases, Metabolic - diagnostic imaging
Child
Consanguinity
Female
Fractures, Spontaneous - diagnostic imaging
Genes, Recessive
Humans
Male
Radiography
Skull - abnormalities
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Summary: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.
ISSN:0364-2348
1432-2161
DOI:10.1007/BF00243719