Literature DB >> 7018242

Historical note: the extraordinary handless and footless families of Brazil - 50 years of acheiropodia.

A Freire-Maia.   

Abstract

The history of acheiropodia is divided into 4 phases: discovery, exploration, modern studies, and contemporary knowledge. The discovery phase (1929-1930) is represented by the publication of the 1st family. For about 30 years, it remained the only family referred to in a number of textbooks of medicine, biology, and others. In the exploration phase (1956-1966), the first family was reanalyzed, other families were ascertained and analysed, and some radiologic aspects of the anomaly were published. The modern phase (1968-1972) is characterized by a large series of studies on the clinical aspects of acheiropodia, including laboratory and radiological examinations, psychological tests, status of vision, electrocardiograms, etc. In the contemporary phase (since 1974), genetic aspects prevailed, and studies were published on segregation analysis, selection pressure, genetic load, mutation rate, etc. Each one of these 4 phases is analyzed in detail.

Entities:  

Mesh:

Year:  1981        PMID: 7018242     DOI: 10.1002/ajmg.1320090108

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

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Review 2.  Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.

Authors:  A Raas-Rothschild; R M Goodman; S Meyer; M B Katznelson; S T Winter; E Gross; M Tamarkin; T Ben-Ami; L Nebel; S Mashiach
Journal:  J Med Genet       Date:  1988-10       Impact factor: 6.318

3.  Epidemiology, etiology, and genetic aspects of reduction deficiencies of the lower limb.

Authors:  Ismat Ghanem
Journal:  J Child Orthop       Date:  2008-04-09       Impact factor: 1.548

4.  From rumors to genetic isolates.

Authors:  Eduardo E Castilla; Lavinia Schuler-Faccini
Journal:  Genet Mol Biol       Date:  2014-03       Impact factor: 1.771

  4 in total

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