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Pyle disease (metaphyseal dysplasia).

作者信息

Beighton P

出版信息

J Med Genet. 1987 Jun;24(6):321-4. doi: 10.1136/jmg.24.6.321.

DOI:10.1136/jmg.24.6.321
PMID:3612703
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050096/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e322/1050096/a90053f26896/jmedgene00080-0003-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e322/1050096/6777970d7850/jmedgene00080-0001-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e322/1050096/b62e1eafa5fb/jmedgene00080-0002-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e322/1050096/a038a9bc22f5/jmedgene00080-0002-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e322/1050096/7c2066acf12a/jmedgene00080-0003-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e322/1050096/4bde3cfd1d34/jmedgene00080-0003-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e322/1050096/a90053f26896/jmedgene00080-0003-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e322/1050096/6777970d7850/jmedgene00080-0001-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e322/1050096/b62e1eafa5fb/jmedgene00080-0002-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e322/1050096/a038a9bc22f5/jmedgene00080-0002-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e322/1050096/7c2066acf12a/jmedgene00080-0003-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e322/1050096/4bde3cfd1d34/jmedgene00080-0003-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e322/1050096/a90053f26896/jmedgene00080-0003-c.jpg

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1
Pyle disease (metaphyseal dysplasia).派尔病（干骺端发育异常）。
J Med Genet. 1987 Jun;24(6):321-4. doi: 10.1136/jmg.24.6.321.
2
[Pyle-Cohn's cranio-metaphyseal dysplasia].[派尔-科恩颅骨干骺端发育异常]
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Metaphyseal abnormalities in children: pathophysiology and radiologic appearance.儿童干骺端异常：病理生理学与影像学表现
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8
Spondyloepiphyseal dysplasia congenita.先天性脊柱骨骺发育不良
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The SAPHO syndrome: an evolving concept for unifying several idiopathic disorders of bone and skin.SAPHO综合征：一种统一多种骨骼与皮肤特发性疾病的不断演变的概念。
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Sfrp4 is required to maintain Ctsk-lineage periosteal stem cell niche function.Sfrp4 对于维持 Ctsk 谱系骨膜干细胞龛功能是必需的。
Proc Natl Acad Sci U S A. 2023 Nov 14;120(46):e2312677120. doi: 10.1073/pnas.2312677120. Epub 2023 Nov 6.
2
Skeletal phenotypes in secreted frizzled-related protein 4 gene knockout mice mimic skeletal architectural abnormalities in subjects with Pyle's disease from SFRP4 mutations.分泌型卷曲相关蛋白4基因敲除小鼠的骨骼表型模拟了因SFRP4突变导致的派尔病患者的骨骼结构异常。
Bone Res. 2023 Feb 20;11(1):9. doi: 10.1038/s41413-022-00242-9.
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Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management.

本文引用的文献

1
[Camurati-Engelmann's disease; critic of its clinical and radiological characteristics; case report].[卡姆拉蒂-恩格尔曼病；对其临床和放射学特征的评论；病例报告]
Rev Rhum Mal Osteoartic. 1956 Mar;23(3):222-9.
2
Familial metaphyseal dysplasia.家族性干骺端发育异常。
Radiology. 1955 Aug;65(2):206-12. doi: 10.1148/65.2.206.
3
Familial metaphyseal dysplasia, Pyle's disease.家族性干骺端发育异常，派尔氏病。
遗传性代谢性骨病：发病机制、诊断与治疗的综述。
Genes (Basel). 2022 Oct 17;13(10):1880. doi: 10.3390/genes13101880.
4
Craniofacial, dental, and molecular features of Pyle disease in a South African child.一名南非儿童的派尔病的颅面、牙齿及分子特征
BDJ Open. 2022 Sep 22;8(1):28. doi: 10.1038/s41405-022-00120-w.
5
The First Report of Biallelic Missense Mutations in the Gene Causing Pyle Disease in Two Siblings.两例兄弟姐妹中导致派尔病的基因双等位基因错义突变的首次报告。
Front Genet. 2020 Oct 23;11:593407. doi: 10.3389/fgene.2020.593407. eCollection 2020.
6
Sfrp4 repression of the Ror2/Jnk cascade in osteoclasts protects cortical bone from excessive endosteal resorption.Sfrp4 通过抑制破骨细胞中的 Ror2/Jnk 级联反应来保护皮质骨免受过度的骨内膜吸收。
Proc Natl Acad Sci U S A. 2019 Jul 9;116(28):14138-14143. doi: 10.1073/pnas.1900881116. Epub 2019 Jun 25.
7
Morphological and molecular characterization of the senile osteoporosis in senescence-accelerated mouse prone 6 (SAMP6).衰老加速小鼠6型（SAMP6）中衰老性骨质疏松症的形态学和分子特征
Med Mol Morphol. 2018 Sep;51(3):139-146. doi: 10.1007/s00795-018-0188-9. Epub 2018 Apr 4.
8
Pyle disease (metaphyseal dysplasia) presenting in two adult sisters.两名成年姐妹患有的派尔病（干骺端发育异常）。
Radiol Case Rep. 2016 Nov 1;11(4):405-410. doi: 10.1016/j.radcr.2016.10.003. eCollection 2016 Dec.
9
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.皮质骨脆性——来自派尔病中sFRP4缺乏的见解。
N Engl J Med. 2016 Jun 30;374(26):2553-2562. doi: 10.1056/NEJMoa1509342.
10
Metaphyseal dysplasia associated with chronic facial nerve palsy.与慢性面神经麻痹相关的干骺端发育异常。
Childs Nerv Syst. 2016 Jul;32(7):1333-6. doi: 10.1007/s00381-016-3021-6. Epub 2016 Feb 4.
Br J Radiol. 1954 Dec;27(324):670-5. doi: 10.1259/0007-1285-27-324-670.
4
[Rare osteopathy caused by disorders of bone growth: Pyle's disease].[骨生长紊乱导致的罕见骨病：派尔病]
Minerva Med. 1954 Feb 10;45(12):418-23.
5
Familial metaphyseal dysplasia.家族性干骺端发育异常
Am J Roentgenol Radium Ther Nucl Med. 1953 Sep;70(3):413-21.
6
Pyle's disease (familial metaphyseal dysplasia). A presentation of two cases and argument for its separation from craniometaphyseal dysplasia.
J Bone Joint Surg Am. 1970 Mar;52(2):347-54.
7
The radiological manifestations of metaphyseal dysplasia (Pyle disease).干骺端发育异常（派尔病）的放射学表现。
Br J Radiol. 1979 Jun;52(618):431-40. doi: 10.1259/0007-1285-52-618-431.