Literature DB >> 957375

Syndrome designations.

M M Cohen.   

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.

Mesh:

Year:  1976        PMID: 957375      PMCID: PMC1013413          DOI: 10.1136/jmg.13.4.266

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  8 in total

1.  DWARFISM IN THE AMISH.

Authors:  V A MCKUSICK; R ELDRIDGE; J A HOSTETLER; J A EGELAND
Journal:  Trans Assoc Am Physicians       Date:  1964

2.  "New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896.

Authors:  F Hecht; R K Beals
Journal:  Pediatrics       Date:  1972-04       Impact factor: 7.124

3.  Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; Jarcho-Levin syndrome of vertebral anomalies. Report of six cases and review of the literature.

Authors:  A Pérez-Comas; J M García-Castro
Journal:  J Pediatr       Date:  1974-09       Impact factor: 4.406

4.  Syndromes.

Authors:  J Warkany
Journal:  Am J Dis Child       Date:  1971-05

5.  Advances in human genetics and impact on society. Conclusion.

Authors:  J F Crow
Journal:  Birth Defects Orig Artic Ser       Date:  1972-07

6.  The Beckwith-Wiedemann syndrome. Seven new cases.

Authors:  M M Cohen; R J Gorlin; M Feingold; R W ten Bensel
Journal:  Am J Dis Child       Date:  1971-12

7.  Progressive synosteosis in Apert's syndrome (acrocephalosyndactyly), with a description of roentgenographic changes in the feet.

Authors:  E W Schauerte; P M St-Aubin
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1966-05

8.  Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases.

Authors:  C E BLANK
Journal:  Ann Hum Genet       Date:  1960-05       Impact factor: 1.670

  8 in total

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