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Significance of assessing the severity of craniosynostosis in patients with X-linked hypophosphatemia (XLH) at diagnosis.

作者信息

Terashita Shintaro, Akai Takuya, Hata Ikue, Ozawa Tetsuo, Imai Chihaya

机构信息

Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan.

Department of Neurosurgery, Faculty of Medicine, University of Toyama, Toyama, Japan.

出版信息

Clin Pediatr Endocrinol. 2025 Apr;34(2):144-148. doi: 10.1297/cpe.2024-0037. Epub 2024 Dec 28.

DOI:10.1297/cpe.2024-0037
PMID:40201382
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11972866/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/264e/11972866/b03ff0994239/cpe-34-144-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/264e/11972866/722b3c186a65/cpe-34-144-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/264e/11972866/b03ff0994239/cpe-34-144-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/264e/11972866/722b3c186a65/cpe-34-144-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/264e/11972866/b03ff0994239/cpe-34-144-g002.jpg

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本文引用的文献

1
X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia.一名患有舟状头、I型Chiari综合征和脊髓空洞症的7岁女孩因新发的新型剪接位点变异导致X连锁低磷血症。
Bone Rep. 2023 Dec 13;20:101731. doi: 10.1016/j.bonr.2023.101731. eCollection 2024 Mar.
2
Craniosynostosis in Patients With X-Linked Hypophosphatemia: A Review.X连锁低磷血症患者的颅缝早闭：综述
JBMR Plus. 2023 Mar 14;7(5):e10728. doi: 10.1002/jbm4.10728. eCollection 2023 May.
3
Health Care Transition From Pediatric- to Adult-Focused Care in X-linked Hypophosphatemia: Expert Consensus.
X 连锁低磷血症的儿科到成人为主医疗照护的健康照护转换：专家共识。
J Clin Endocrinol Metab. 2022 Feb 17;107(3):599-613. doi: 10.1210/clinem/dgab796.
4
Genotype and Phenotype Analysis in X-Linked Hypophosphatemia.X连锁低磷血症的基因型和表型分析
Front Pediatr. 2021 Aug 9;9:699767. doi: 10.3389/fped.2021.699767. eCollection 2021.
5
FGF23 and its role in X-linked hypophosphatemia-related morbidity.成纤维细胞生长因子 23 及其在 X 连锁低磷血症相关发病机制中的作用。
Orphanet J Rare Dis. 2019 Feb 26;14(1):58. doi: 10.1186/s13023-019-1014-8.
6
The first Korean case report with scaphocephaly as the initial sign of X-linked hypophosphatemic rickets.首例以舟状头畸形为X连锁低磷性佝偻病初始体征的韩国病例报告。
Childs Nerv Syst. 2019 Jun;35(6):1045-1049. doi: 10.1007/s00381-018-04042-7. Epub 2019 Jan 6.
7
High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X-Linked Hypophosphatemic Rickets (XLHR).X 连锁低磷性佝偻病（XLHR）患儿颅缝早闭和 Chiari I 畸形的高发率。
J Bone Miner Res. 2019 Mar;34(3):490-496. doi: 10.1002/jbmr.3614. Epub 2018 Nov 20.
8
Hypophosphatemic rickets and craniosynostosis: a multicenter case series.低磷性佝偻病与颅缝早闭：一项多中心病例系列研究
J Neurosurg Pediatr. 2016 Jun;17(6):694-700. doi: 10.3171/2015.10.PEDS15273. Epub 2016 Jan 29.
9
X-linked hypophosphatemic rickets and sagittal craniosynostosis: three patients requiring operative cranial expansion: case series and literature review.X连锁低磷性佝偻病与矢状缝早闭：3例需行颅骨扩张手术的患者：病例系列及文献综述
Childs Nerv Syst. 2016 May;32(5):887-91. doi: 10.1007/s00381-015-2934-9. Epub 2015 Oct 28.
10
Bilateral coronal and sagittal synostosis in X-linked hypophosphatemic rickets: a case report.X 连锁低磷血症性佝偻病伴双侧冠状和矢状缝早闭：病例报告。
J Craniomaxillofac Surg. 2013 Dec;41(8):842-4. doi: 10.1016/j.jcms.2013.01.039. Epub 2013 Mar 7.