Literature DB >> 198844

Autosomal dominant osteosclerosis.

M I Gelman.   

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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Year:  1977        PMID: 198844     DOI: 10.1148/125.2.289

Source DB:  PubMed          Journal:  Radiology        ISSN: 0033-8419            Impact factor:   11.105


  7 in total

Review 1.  Sclerosing bone dysplasias--a target-site approach.

Authors:  A Greenspan
Journal:  Skeletal Radiol       Date:  1991       Impact factor: 2.199

2.  Case report 546: Endosteal hyperostosis (Worth type).

Authors:  T Irie; M Takahashi; M Kaneko
Journal:  Skeletal Radiol       Date:  1989       Impact factor: 2.199

Review 3.  Craniotubular bone disorders.

Authors:  R J Gorlin
Journal:  Pediatr Radiol       Date:  1994

4.  Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.

Authors:  W Balemans; J Van Den Ende; A Freire Paes-Alves; F G Dikkers; P J Willems; F Vanhoenacker; N de Almeida-Melo; C F Alves; C A Stratakis; S C Hill; W Van Hul
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

5.  Benign osteopetrosis, in a patient with sickle-cell beta+ (beta+) thalassaemia.

Authors:  D Kassimos; G Kalteziotis; G Alafakis; Z Sinakos; C Tegos
Journal:  Clin Rheumatol       Date:  1995-07       Impact factor: 2.980

6.  Autosomal dominant type of endosteal hyperostosis with unusual manifestations of sclerosis of the jaw bones.

Authors:  T Nakamura; N Yamada; R Nonaka; M Sasaki
Journal:  Skeletal Radiol       Date:  1987       Impact factor: 2.199

7.  Sclerosteosis in children.

Authors:  B J Cremin
Journal:  Pediatr Radiol       Date:  1979-07-24
  7 in total

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