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Symphalangism with metacarpophalangeal fusions and elbow abnormalities.

作者信息

Kassner E G, Katz I, Qazi Q H

出版信息

Pediatr Radiol. 1976 Feb 13;4(2):103-7. doi: 10.1007/BF00973952.

DOI:10.1007/BF00973952
PMID:967566
Abstract

Three generations of a family manifest similar skeletal abnormalities: proximal symphalangism with several unusual features, metacarpophalangeal synostoses, massive tarsal and carpal fusions and abnormalities of the elbows (radial head dislocation, radiohumeral synostosis). Two members of this family were previously reported by Pearlman et al. as examples of the Nievergelt syndrome, but the affected individuals lack the mesomelic dysplasia that is an integral part of that entity. Moreover, the Nievergelt syndrome does not include symphalangism. The term "Nievergelt-Pearlman syndrome" should be dropped.

摘要

相似文献

1
Symphalangism with metacarpophalangeal fusions and elbow abnormalities.
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2
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The multiple synostoses syndrome. A plea for simplicity.
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J Bone Joint Surg Am. 1985 Jul;67(6):884-9.
5
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Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.近端指关节融合症和多发骨连接综合征患者中NOG基因的突变。
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Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.伴有多种先天性畸形的遗传性综合征的家系研究:指关节粘连、腕跗骨融合、短指畸形、颅缝早闭、斜视、髋关节骨软骨炎。
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本文引用的文献

1
Further data on symphalangism.关于指(趾)关节融合症的更多数据。
J Hered. 1948 Jan;39(1):23-7. doi: 10.1093/oxfordjournals.jhered.a105757.
2
FAMILIAL TARSAL AND CARPAL SYNOSTOSIS WITH RADIAL-HEAD SUBLUXATION (NIEVERGELT'S SYNDROME).伴有桡骨头半脱位的家族性跗腕关节融合(尼弗盖尔特综合征)
J Bone Joint Surg Am. 1964 Apr;46:585-92.
3
Nievergelt-Pearlman syndrome. Synostosis in feet and hands with dysplasia of elbows. Report of a case.尼韦尔热尔特-珀尔曼综合征。手足关节融合伴肘部发育异常。病例报告。
J Bone Joint Surg Br. 1970 May;52(2):325-9.
4
Humeroradial synostosis. A case report.肱桡关节融合。病例报告。
Humangenetik. 1973 Sep 20;19(3):341-3. doi: 10.1007/BF00278416.
5
[Multiple synostosis disease].[多发性骨融合疾病]
Nouv Presse Med. 1972 Dec 16;1(45):3041-7.