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Annotated abstract

How modern imaging can change diagnoses in historical cases of constitutional bone diseases

archdischild · 2026-07-08 · canonical JSON source

3 visible annotations · policy: published · automated confidence ≥ 75.00%

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The teratology collection of the Testut-Latarjet-Museum in Lyon houses 100 fetuses and newborns, some of which date back to the 19th century. In this study, we focus on three well-preserved specimens, all presenting with disproportionate severe short stature and historically mislabeled as cases of 'rickets’. None of the information about the clinical history (gestation, age at death, family history) was available. We carried out macroscopic and imaging analyses using CT (IngenuityDS, Philips, 80kV/208mA/FOV512×512/slice-thickness 1 mm/pitch 0.6 mm). Images and pieces were multidisciplinary analysed according to the international classification of genetic skeletal disorders.1