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对一名患有多中心性腕跗骨溶解症且出现关节炎症和骨形成功能障碍的幼儿进行治疗。

Treatment of a young child with multicentric carpotarsal osteolysis exhibiting joint inflammation and dysfunctional bone formation.

作者信息

Trinkino Bailey, Ma Nina S

机构信息

Marian University College of Osteopathic Medicine, 3200 Coldspring Road, Indianapolis, IN 46222, United States of America.

Section of Endocrinology, Children's Hospital Colorado, 13123 E. 16th Avenue, Aurora, CO 80045, United States of America.

出版信息

Bone Rep. 2023 Jul 19;19:101701. doi: 10.1016/j.bonr.2023.101701. eCollection 2023 Dec.

DOI:10.1016/j.bonr.2023.101701
PMID:37576926
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10412863/
Abstract

Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal dysplasia characterized by osteolysis of the carpal and tarsal bones. Antiresorptive agents have proven ineffective and the pathogenesis of MCTO remains poorly understood. We report a young child with a novel variant in who demonstrated clinical improvement of joint symptoms following anti-rheumatic therapies. Also, radiographs from a young age suggest that dysfunctional bone formation may play a role in the skeletal phenotype of MCTO.

摘要

多中心性腕跗骨骨质溶解症（MCTO）是一种罕见的骨骼发育异常，其特征为腕骨和跗骨的骨质溶解。抗吸收剂已被证明无效，MCTO的发病机制仍知之甚少。我们报告了一名患有新变异的幼儿，其在接受抗风湿治疗后关节症状有临床改善。此外，幼年时的X光片表明，功能失调的骨形成可能在MCTO的骨骼表型中起作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/872a/10412863/9abc4860e4c5/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/872a/10412863/53417521a5be/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/872a/10412863/87c4c282d225/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/872a/10412863/9abc4860e4c5/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/872a/10412863/53417521a5be/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/872a/10412863/87c4c282d225/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/872a/10412863/9abc4860e4c5/gr3.jpg

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JBMR Plus. 2023 Mar 9;7(5):e10729. doi: 10.1002/jbm4.10729. eCollection 2023 May.
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J Clin Med. 2022 Jul 29;11(15):4423. doi: 10.3390/jcm11154423.
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