Abstract
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.
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References
Beighton P, Durr L, Hamersma H (1976) The clinical features of sclerosteosis. Ann Intern Med 84:393
Fosmoe RJ, Holm RS, Hildreth RC (1969) Van Buchem's disease (hyperostosis corticalis generalizata familiaris). A case report. Radiology 90:771
Gorlin RJ, Spranger J, Koszalka ME (1969) Genetic craniotubular bone dysplasias and hyperostoses. A critical analysis. Birth Defects V(6): 79
Halliday J (1949) A rare case of bone dystrophy. Br J Surg 37:52
Lélek I (1961) Camurati-Engelmannsche Erkrankung. Fortschr Rontgenstr 94:702
Rubin P (1964) Dynamic classification of bone dysplasias. Year Book Medical, Chicago, pp 292, 295
Schwarz E (1960) Craniometaphyseal dysplasia. Am J Roentgenol 84:461
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Langer, L.O., Brill, P.W., Afshani, E. et al. Radiographic features of craniometadiaphyseal dysplasia, wormian bone type. Skeletal Radiol. 20, 37–41 (1991). https://doi.org/10.1007/BF00243719
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DOI: https://doi.org/10.1007/BF00243719