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Intractable Rare Dis Res. 2020 Feb;9(1):35-39. doi: 10.5582/irdr.2020.01019.

Health assessment of patients with achondroplasia, pseudoachondroplasia, and rickets based on 3D non-linear diagnostics.

Zhang J1,2, Lu Y1,2, Wang Y3, Li T3, Peng C1,2, Zhang S1,2, Gao Q2, Li W2, Liu C2, Han J1,2.

Author information

1
School of Medicine and Life Sciences, University of Jinan, Shandong Academy of Medical Sciences, Ji'nan, China.
2
Key Laboratory for Biotech Drugs of the National Health Commission, Key Laboratory for Rare & Uncommon Diseases of Shandong Province, Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan, China.
3
Shandong Provincial Hospital Affiliated with Shandong First Medical University, Ji'nan, China.

Abstract

The goal of this study was to analyze diminishment of the functional status of the skeleton, parts of organs, regions of the brain, connective tissues, and chondrocytes in patients with achondroplasia (ACH), pseudoachondroplasia (PSACH), and rickets. Three-dimensional non-linear scanning (3D-NLS) was used to analyze the functional status of patients with genetic bone disorders, including 7 patients with ACH, 3 patients with PSACH, and 3 patients with rickets. Results indicated that the percentage of patients with long bones in the decompensatory phase did not differ depending on whether they had ACH, PSACH, or rickets. Joints in the decompensatory phase did not differ in patients with ACH except for the right hip (16.67%). Various joints were in the decompensatory phase (16.7-33.3%) in patients with rickets. The thoracic vertebrae, lumbar vertebrae, and liver were in the decompensatory phase in all 3 groups of patients. Connective tissues were in the decompensatory phase in 33.33% of patients with ACH. None of the patients with PSACH had chondrocytes in the decompensatory phase but 66.67% of patients with ACH or rickets did. Regions of the brain in the decompensatory phase were most prevalent in patients with rickets or ACH but not in patients with PSACH. In conclusion, diagnosis based on 3D-NLS was able to identify the functional status of genetic bone disorders. Some areas of decompensation were common to the 3 diseases studied but other areas were specific to a given disease.

KEYWORDS:

3-D non-linear scanning technology; achondroplasia; health assessment; pseudoachondroplasia; rickets

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