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Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis
Boston Childrens Hosp, MA 02115 USA.
Linköping University, Department of Biomedical and Clinical Sciences. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Clinical genetics. Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden.
Karolinska Inst, Sweden; Saitama Univ Hosp, Japan.
2023 (English)In: Radiographics, ISSN 0271-5333, E-ISSN 1527-1323, Vol. 43, no 5, article id 220067Article in journal (Refereed) Published
Abstract [en]

Skeletal dysplasias are a heterogeneous collection of genetic disorders characterized by bone and cartilage abnormalities, and they encompass over 400 disorders. These disorders are rare individually, but collectively they are common (approximate incidence of one in 5000 births). Radiologists occasionally encounter skeletal dysplasias in daily practice. In the 1980s, Professor Juergen Spranger proposed a concept suitable for the diagnosis of skeletal dysplasias termed bone dysplasia families. He stated that (a) different bone dysplasias that share a similar skeletal pattern can be grouped into a “family,” (b) the final diagnosis is feasible through the provisional recognition of a pattern followed by a more careful analysis, and (c) families of bone dysplasias may be the result of similar pathogenetic mechanisms. The prototypes of bone dysplasia families include dysostosis multiplex family, achondroplasia family, spondyloepiphyseal dysplasia congenita family, and Larsen syndrome–otopalatodigital syndrome family. Since Spranger’s proposal, the concept of bone dysplasia families, along with advancing genetic techniques, has been validated and further expanded. Today, this molecularly proven concept enables a simple stepwise approach to be applied to the radiologic diagnosis of skeletal dysplasias. The first step is the categorization of a given case into a family based on pattern recognition, and the second step is more meticulous observation, such as identification of different severities of the same pattern or subtle but distinctive findings. Since major skeletal dysplasias are limited in number, radiologists can be familiar with the representative patterns of these disorders. The authors describe a stepwise radiologic approach to diagnosing major skeletal dysplasia families and review the clinical and genetic features of these disorders.

Place, publisher, year, edition, pages
RADIOLOGICAL SOC NORTH AMERICA (RSNA) , 2023. Vol. 43, no 5, article id 220067
National Category
Medical Image Processing
Identifiers
URN: urn:nbn:se:liu:diva-196114DOI: 10.1148/rg.220067ISI: 000995888900002PubMedID: 37053103OAI: oai:DiVA.org:liu-196114DiVA, id: diva2:1780141
Note

Funding Agencies|Region Stockholm [20180131, 20200500]; Swedish Research Council [2018-03046]; Rare Disease Foundation (Sallsynta Fonden); Karolinska Institutet

Available from: 2023-07-05 Created: 2023-07-05 Last updated: 2023-07-05

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