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两种特殊类型的内生软骨瘤病。

Two peculiar types of enchondromatosis.

作者信息

Spranger J, Kemperdieck H, Bakowski H, Opitz J M

出版信息

Pediatr Radiol. 1978 Dec 4;7(4):215-9. doi: 10.1007/BF02386711.

DOI:10.1007/BF02386711
PMID:733398
Abstract

On the basis of 3 personal observations and of 6 cases from the literature, two peculiar types of enchondromatosis are delineated: 1. Enchondromatosis with generalized, irregular vertebral lesions, and 2. Generalized enchondromatosis with mild platyspondyly.

摘要

基于3例个人观察病例及文献报道的6例病例，确定了两种特殊类型的内生软骨瘤病：1. 伴有广泛性、不规则椎体病变的内生软骨瘤病；2. 伴有轻度扁平椎的广泛性内生软骨瘤病。

相似文献

1
Two peculiar types of enchondromatosis.两种特殊类型的内生软骨瘤病。
Pediatr Radiol. 1978 Dec 4;7(4):215-9. doi: 10.1007/BF02386711.
2
Generalized enchondromatosis with unusual complications of soft tissue calcifications and hemangiomas. Follow-up for over a twelve-year period.伴有软组织钙化和血管瘤等罕见并发症的广泛性内生软骨瘤病。十二年以上的随访。
Skeletal Radiol. 1982;8(1):43-6. doi: 10.1007/BF00361368.
3
Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers.脊椎软骨发育异常。两兄弟患内生软骨瘤病并伴有严重扁平椎。
Radiology. 1976 Jan;118(1):133-9. doi: 10.1148/118.1.133.
4
[Multiple enchondromatosis with predominant involvement of the bones of the hand. Review of 10 cases].[以手部骨骼受累为主的多发性内生软骨瘤病。10例病例回顾]
Rev Clin Esp. 1986 Feb;178(2):54-60.
5
Axial spondylometaphyseal dysplasia.脊柱干骺端发育不良。
Eur J Pediatr. 1997 Aug;156(8):627-30. doi: 10.1007/s004310050679.
6
Case report 418: Multiple enchondromatosis (Ollier disease) with severe vertebral changes.病例报告418：伴有严重椎体改变的多发性内生软骨瘤病（Ollier病）
Skeletal Radiol. 1987;16(3):236-9. doi: 10.1007/BF00356960.
7
[Predominantly one-sided bone chondromatosis-so-called Ollier's disease].[主要为单侧骨软骨瘤病——即所谓的奥利尔病]
Radiol Clin. 1961 Jan;30:28-45.
8
Case report 416: Spondylometaphyseal chondroplasia with an unclassified mucopolysaccharide in the urine ("generalized enchondromatosis with mucopolysacchariduria").病例报告416：脊椎干骺端软骨发育不良伴尿液中一种未分类的黏多糖（“伴有黏多糖尿症的全身性内生软骨瘤病”）
Skeletal Radiol. 1987;16(2):175-8. doi: 10.1007/BF00367770.
9
[Enchondromatosis in an 8-year-old boy].[一名8岁男孩的内生软骨瘤病]
Przegl Lek. 1970;26(10):779-81.
10
Indonesian type of metaphyseal dysplasia.
Can Assoc Radiol J. 1993 Oct;44(5):384-9.

引用本文的文献

1
Rare radiological manifestation of enchondromatosis in children: Columnar pattern: A retrospective cohort study.儿童内生软骨瘤病的罕见放射学表现：柱状模式：回顾性队列研究。
Medicine (Baltimore). 2024 Jul 26;103(30):e39106. doi: 10.1097/MD.0000000000039106.
2
Lengthening the Lower Extremities of Children with Ollier's and Maffucci's Enchondromatosis Using Implantable Lengthening Nails.使用可植入延长钉延长 Ollier 病和 Maffucci 综合征患儿的下肢
Children (Basel). 2021 Jun 14;8(6):502. doi: 10.3390/children8060502.
3
Ollier disease: the first report in Syria.

本文引用的文献

1
Dyschondroplasia; synonyms, Ollier's disease, multiple enchondromata.软骨发育异常；同义词，奥利尔病、多发性内生软骨瘤。
J Bone Joint Surg Br. 1948 Nov;30B(4):689-704.
2
[Ollier's disease. Pathogenetic problems and therapeutic possibilities].[骨软骨瘤病。发病机制问题与治疗可能性]
Dtsch Med Wochenschr. 1962 Mar 16;87:535-41. doi: 10.1055/s-0028-1111790.
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The variable manifestations of multiple enchondromatosis.多发性内生软骨瘤病的多样表现。
奥利尔病：叙利亚首例报告。
Oxf Med Case Reports. 2020 Jan 31;2020(1):omz145. doi: 10.1093/omcr/omz145. eCollection 2020 Jan.
4
Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in .两名因……新的杂合突变导致的脊椎骨骺发育异常患者的纵向随访
Mol Syndromol. 2018 May;9(3):134-140. doi: 10.1159/000488438. Epub 2018 Apr 24.
5
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.由ACP5基因突变引起的脊椎骨骺发育不良：一项综合调查。
J Clin Immunol. 2016 Apr;36(3):220-34. doi: 10.1007/s10875-016-0252-y. Epub 2016 Mar 8.
6
The oncometabolite D-2-hydroxyglutarate induced by mutant IDH1 or -2 blocks osteoblast differentiation in vitro and in vivo.由突变型异柠檬酸脱氢酶1或2诱导产生的致癌代谢物D-2-羟基戊二酸在体内外均会阻碍成骨细胞分化。
Oncotarget. 2015 Jun 20;6(17):14832-42. doi: 10.18632/oncotarget.4024.
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Inhibition of mutant IDH1 decreases D-2-HG levels without affecting tumorigenic properties of chondrosarcoma cell lines.抑制突变型异柠檬酸脱氢酶1（IDH1）可降低D-2-羟基戊二酸（D-2-HG）水平，而不影响软骨肉瘤细胞系的致瘤特性。
Oncotarget. 2015 May 20;6(14):12505-19. doi: 10.18632/oncotarget.3723.
8
Common somatic alterations identified in maffucci syndrome by molecular karyotyping.通过分子核型分析在马富西综合征中鉴定出的常见体细胞改变。
Mol Syndromol. 2014 Dec;5(6):259-67. doi: 10.1159/000365898. Epub 2014 Aug 26.
9
A rare case of enchondromatosis of the knees and hands with involvement of Hoffa's fat pad and peri-articular soft-tissues.一例罕见的累及霍法脂肪垫和关节周围软组织的膝手部内生软骨瘤病。
J Radiol Case Rep. 2013 Jun 1;7(6):22-30. doi: 10.3941/jrcr.v7i6.1307. eCollection 2013 Jun.
10
Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients.4 例干骺端软骨母细胞瘤合并 D-2-羟戊二酸尿症患者。
Skeletal Radiol. 2012 Nov;41(11):1479-87. doi: 10.1007/s00256-012-1442-1. Epub 2012 May 26.
Radiology. 1971 May;99(2):377-88. doi: 10.1148/99.2.377.
4
[Metachondromatosis].
Z Kinderheilkd. 1971;109(3):246-61.
5
Maffucci's syndrome: functional and neoplastic significance. Case report and review of the literature.马富西综合征：功能及肿瘤学意义。病例报告及文献综述。
J Bone Joint Surg Am. 1973 Oct;55(7):1465-79.
6
Metaphyseal chondrodysplasia calcificans. A report on two cases.
Br J Radiol. 1971 Oct;44(526):773-9. doi: 10.1259/0007-1285-44-526-773.
7
Micromelic type of spondylo-meta-epiphyseal dysplasia.微小型脊椎骨骺发育不良
Pediatr Radiol. 1974 Apr 5;2(1):61-4. doi: 10.1007/BF00972849.
8
Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers.脊椎软骨发育异常。两兄弟患内生软骨瘤病并伴有严重扁平椎。
Radiology. 1976 Jan;118(1):133-9. doi: 10.1148/118.1.133.