[A historical description of the association of macro-orchidea, mental retardation and cranial dysmorphia in males (fragile X chromosome syndrome) by A.B. Richerand].
BACKGROUND
Anthelme Baltasar Richerand practiced medicine as Chief Surgeon of the Hospital de S. Luis in Paris and was professor of the Faculty of Medicine of that city during the first quarter of the XIX century. His greatest work was titled Nouveaux Eléments de Physiologie, a book considered to be the standard work on physiology of its time and was translated into several languages, including Spanish.


METHODS
In chapter CLV of this work there is the first description of associated macro-orchidia and mental retardation in males, with respect to three cases attended by the author.


CONCLUSIONS
The fragile X chromosome syndrome is the commonest cause of hereditary male mental retardation associated with macro-orchidia. It is also known as the eponymous syndrome of Martin-Bell in honour of the first description published by these authors in 1943. However, the first recognition of the association of macro-orchidia with mental retardation in males was by Richerand at the beginning of the XIX century.
Serrano-Castro
P J
PJ
Hospital Torrecárdenas, Almería, España. pserrano@meditex.es
Serrano-Castillo
P
P
D005600:Fragile X Syndrome / Q000150:complications / Q000266:history*; D005602:France; D049671:History, 18th Century; D049672:History, 19th Century; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000266:history; D008297:Male; D010827:Physiology / Q000266:history; D012886:Skull / Q000002:abnormalities; D013737:Testis / Q000002:abnormalities