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喀麦隆新生儿期成骨不全症：一例报告。

Osteogenesis Imperfecta in neonatal period in Cameroon: A case report.

作者信息

Mbono Betoko Ritha Carole, Ngo Um Sap Suzanne, Ngo Yamben Marie-Ange, Tony Nengom Jocelyn, Koki Ndombo Paul

机构信息

Université Of Douala Faculty of Medicine and Pharmaceutical Sciences Douala Cameroon.

University of Yaounde, Faculty of Medicine and Biomedical Sciences Yaounde Cameroon.

出版信息

Clin Case Rep. 2020 Nov 20;9(1):526-530. doi: 10.1002/ccr3.3572. eCollection 2021 Jan.

DOI:10.1002/ccr3.3572
PMID:33489208
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7813006/
Abstract

Early forms of Osteogenesis Imperfecta should be considered as main etiology of bone deformities in newborns. Prenatal diagnosis and genetic counseling should be improved in Africa. Management of these children remains difficult in low-income countries.

摘要

成骨不全的早期形式应被视为新生儿骨骼畸形的主要病因。非洲应改善产前诊断和遗传咨询。在低收入国家，对这些儿童的治疗仍然困难。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbbd/7813006/87322a5bd724/CCR3-9-526-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbbd/7813006/62dfcf7e27a6/CCR3-9-526-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbbd/7813006/33a3e5c60cd8/CCR3-9-526-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbbd/7813006/8ade66d5153e/CCR3-9-526-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbbd/7813006/87322a5bd724/CCR3-9-526-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbbd/7813006/62dfcf7e27a6/CCR3-9-526-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbbd/7813006/33a3e5c60cd8/CCR3-9-526-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbbd/7813006/8ade66d5153e/CCR3-9-526-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbbd/7813006/87322a5bd724/CCR3-9-526-g004.jpg

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引用本文的文献

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A Sporadic Case of Osteogenesis Imperfecta: From Prenatal Diagnosis to Outcomes in Infancy-Case Report and Literature Review.一例散发型成骨不全症：从产前诊断到婴儿期结局——病例报告与文献复习。
Genes (Basel). 2023 Nov 10;14(11):2062. doi: 10.3390/genes14112062.

本文引用的文献

1
Cyclic bisphosphonate therapy reduces pain and improves physical functioning in children with osteogenesis imperfecta.环磷酰胺治疗可减轻成骨不全患儿的疼痛并改善其身体功能。
BMC Musculoskelet Disord. 2018 Sep 24;19(1):344. doi: 10.1186/s12891-018-2252-y.
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Osteogenesis imperfecta.成骨不全症。
Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52.
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Bisphosphonate therapy for osteogenesis imperfecta.用于成骨不全症的双膦酸盐治疗
Cochrane Database Syst Rev. 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4.
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[Osteogenesis imperfecta: about four cases in Ouagadougou (Burkina Faso)].[成骨不全症：瓦加杜古（布基纳法索）的四例病例]
Pan Afr Med J. 2015 Sep 28;22:69. doi: 10.11604/pamj.2015.22.69.6299. eCollection 2015.
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Osteogenesis imperfecta.成骨不全症
Lancet. 2016 Apr 16;387(10028):1657-71. doi: 10.1016/S0140-6736(15)00728-X. Epub 2015 Nov 3.
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Update on the evaluation and treatment of osteogenesis imperfecta.成骨不全症的评估和治疗进展。
Pediatr Clin North Am. 2014 Dec;61(6):1243-57. doi: 10.1016/j.pcl.2014.08.010. Epub 2014 Sep 22.
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Clinical and radiological manifestations of osteogenesis imperfecta type V.Ⅴ型成骨不全症的临床及影像学表现
J Korean Med Sci. 2006 Aug;21(4):709-14. doi: 10.3346/jkms.2006.21.4.709.
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Osteogenesis imperfecta.成骨不全症
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Osteogenesis imperfecta: practical treatment guidelines.成骨不全症：实用治疗指南。
Paediatr Drugs. 2000 Nov-Dec;2(6):465-88. doi: 10.2165/00128072-200002060-00005.
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Genetic heterogeneity in osteogenesis imperfecta.成骨不全症中的遗传异质性。
J Med Genet. 1979 Apr;16(2):101-16. doi: 10.1136/jmg.16.2.101.