[Malformation syndromes in the spanish literature: The first descriptions]

Abstract

Introduction: Malformation or dysmorphic syndromes are conditions that are defined by the combination of a set of major and minor malformations that generally have a genetic origin. We investigated the early Spanish descriptions of a large number of sydromes.

Material and methods: We started the study from the definition in a classic treatise on the subject. Among the 60 selected syndromes studied, at least two articles of each syndrome among those published in Spain and for the first time were listed in the Spanish Medical Index. For years prior to 1970, it expanded The search was expanded to PubMed, for the years before 1970.

Results: We collected 64 articles that referred to 58 syndromes. Four articles were written during the first half of the twentieth century. Almost half of the works (n=30) appeared in the 1970's. The papers were published in ten Spanish pediatric, nine Spanish non-pediatric, three pediatric non-Spanish and two non-Spanish non-pediatric Journals. The Journals with the most articles published were Anales de Pediatría y Revista Española de Pediatría. The hospitals where the articles originate more often were Hospital La Paz, Madrid and Hospital Clinic, Barcelona. The rest of the works were written in 30 pediatric hospitals and two more in non-Spanish hospitals. The number of authors increased with the passage of time.

Conclusions: Although there were potential limitations, we have identified what may be the first descriptions of 58 syndromes, among the 60 chosen initially.

Keywords: Bibliografía médica; Dysmorphic syndromes; Historia de la pediatría; History of Pediatrics; Malformation syndromes; Medical literature; Síndromes dismórficos; Síndromes malformativos.