Literature DB >> 2683785

Radiologic nosology of bone dysplasias.

J Spranger1.   

Abstract

The usefulness of radiodiagnostics in the delineation of bone dysplasias is exemplified by an attempt to classify the lethal osteochondrodysplasias. Based on morphologic criteria these disorders are subdivided into 11 major categories. Within these categories pathogenetically related bone dysplasia families can be discerned. Radiology meets its limits when different mutations lead to identical or overlapping phenotypes. In the future radiology will keep its prominent place in the diagnosis and nosology of inborn errors of skeletal development because of its ready availability, speed, non-invasiveness, and discriminating power. As shown by disorders such as metatropic dysplasia or iduronidase deficiency, radiology is most important to evaluate the prognosis of a given condition.

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Year:  1989        PMID: 2683785     DOI: 10.1002/ajmg.1320340117

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

Review 1.  Understanding developmental mechanisms in the context of osteoarthritis.

Authors:  Peter M van der Kraan
Journal:  Curr Rheumatol Rep       Date:  2013-06       Impact factor: 4.592

2.  Platyspondylic lethal osteochondrodysplasia: Shiraz type with radiological-pathological correlation.

Authors:  R S Campbell; M Ireland; C A Bloxham; A J Chippindale
Journal:  Pediatr Radiol       Date:  1992

3.  Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia.

Authors:  Shanshan Lv; Jiao Zhao; Li Liu; Chun Wang; Hua Yue; Hao Zhang; Shanshan Li; Zhenlin Zhang
Journal:  Front Genet       Date:  2022-08-31       Impact factor: 4.772

  3 in total

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