Radiology. 1977 Nov;125(2):289-96.

Autosomal dominant osteosclerosis.

Abstract

Two cases of a craniotubular hyperostosis are presented. The radiographic features closely resemble Van Buchem disease (hyperostosis corticalis generalisata; endosteal hyperostosis, recessive type), including symmetrical and bilateral diaphyseal cortical thickening of the long and short tubular bones as well as sclerosis and thickening of the calvaria, mandible, shoulder and pelvic girdles, and thoracic cage. Unlike Van Buchem disease, no periosteal excresences are observed, alkaline phosphatase is normal, no basal foramina encroachment of the skull is present, and the genetic pattern is dominant inheritance. These cases possibly represent a separate disorder rather than a variant of Van Buchem disease.

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Autosomal dominant osteosclerosis. [Radiology. 1977]
Autosomal dominant osteosclerosis.
Gorlin RJ, Glass L. Radiology. 1977 Nov; 125(2):547-8.
Van Buchem disease. [Postgrad Med J. 1977]
Van Buchem disease.
Jacobs P. Postgrad Med J. 1977 Aug; 53(622):497-506.
Autosomal dominant osteosclerosis: report of a kindred. [Oral Surg Oral Med Oral Pathol...]
Autosomal dominant osteosclerosis: report of a kindred.
Curran AE, Pfeffle RC, Miller E. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1999 May; 87(5):600-4.
Review [On the circle of forms of sclerosing osteoses (author's transl)]. [Radiol Diagn (Berl). 1974]
Review [On the circle of forms of sclerosing osteoses (author's transl)].
Kolár J. Radiol Diagn (Berl). 1974; 15(3):261-80.
Review A review of the osteopetroses. [Postgrad Med J. 1977]
Review A review of the osteopetroses.
Beighton P, Horan F, Hamersma H. Postgrad Med J. 1977 Aug; 53(622):507-16.

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Cited by 1 PubMed Central article

Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21. [Am J Hum Genet. 1999]
Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.
Balemans W, Van Den Ende J, Freire Paes-Alves A, Dikkers FG, Willems PJ, Vanhoenacker F, de Almeida-Melo N, Alves CF, Stratakis CA, Hill SC, et al. Am J Hum Genet. 1999 Jun; 64(6):1661-9.

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