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综合征命名

Syndrome designations.

作者信息

Cohen M M

出版信息

J Med Genet. 1976 Aug;13(4):266-70. doi: 10.1136/jmg.13.4.266.

DOI:10.1136/jmg.13.4.266
PMID:957375
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013413/
Abstract

Because syndrome designations permit the collection of data, they are much more than just lables. As new syndromes become delineated, their names connote (1) their phenotypic spectra, (2) their natural histories, and (3) their modes of inheritance or risk of recurrence. Various methods for designating new syndromes are reviewed, including naming them after (1) the basic defect, (2) an eponym, (3) one or more striking features, (4) an acronym, (5) a numeral, (6) a geographic term, and (7) some combination of the above. None of these systems of nomenclature is without fault. The advantages and disadvantages of each are discussed.

摘要

由于综合征的命名有助于数据收集，所以它们远不止是标签。随着新综合征被明确界定，其名称意味着（1）表型谱，（2）自然病史，以及（3）遗传方式或复发风险。本文回顾了命名新综合征的各种方法，包括以（1）基本缺陷、（2）人名、（3）一个或多个显著特征、（4）首字母缩写词、（5）数字、（6）地理术语，以及（7）上述内容的某种组合来命名。这些命名系统都并非完美无缺。本文讨论了每种系统的优缺点。

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本文引用的文献

1
DWARFISM IN THE AMISH.阿米什人群中的侏儒症
Trans Assoc Am Physicians. 1964;77:151-68.
2
Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases.阿佩尔综合征（一种尖头并指畸形）——对英国39例病例的观察
Ann Hum Genet. 1960 May;24:151-64. doi: 10.1111/j.1469-1809.1959.tb01728.x.
3
Progressive synosteosis in Apert's syndrome (acrocephalosyndactyly), with a description of roentgenographic changes in the feet.Apert综合征（尖头并指畸形）中的进行性骨融合，并描述足部的X线变化。
Am J Roentgenol Radium Ther Nucl Med. 1966 May;97(1):67-73. doi: 10.2214/ajr.97.1.67.
4
The Beckwith-Wiedemann syndrome. Seven new cases.
Am J Dis Child. 1971 Dec;122(6):515-9. doi: 10.1001/archpedi.1971.02110060085015.
5
Advances in human genetics and impact on society. Conclusion.人类遗传学进展及其对社会的影响。结论。
Birth Defects Orig Artic Ser. 1972 Jul;8(4):115-8.
6
"New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896.
Pediatrics. 1972 Apr;49(4):574-9.
7
Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; Jarcho-Levin syndrome of vertebral anomalies. Report of six cases and review of the literature.枕部-面部-颈部-胸部-腹部-指骨发育异常；脊椎异常的贾科-莱文综合征。6例报告及文献复习。
J Pediatr. 1974 Sep;85(3):388-91. doi: 10.1016/s0022-3476(74)80126-5.
8
Syndromes.综合征。
Am J Dis Child. 1971 May;121(5):365-70. doi: 10.1001/archpedi.1971.02100160035001.

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