American Journal of Medical Genetics 132A:231 (2005


Correspondence The Real Earliest Historical Evidence of Down Syndrome
To the Editor: The recent comments of Conor [2004] on the early historical evidence of Down syndrome, prompted me to present and describe what I think it is, at present, the earliest evidence that we have had of this syndrome. In Figure 1, I present a beautiful terra-cotta that was made at the mid-point of the first century (approximately the year 500), which belongs to the ‘‘Tolteca’’ culture of Mexico. In the terra-cotta, it is easy to identify the short palpebral fissures, oblique eyes, midface hypoplasia, and open mouth with macroglossia, findings that clearly define the face of a person with Down syndrome. I think that, as stated by Conor [2004], Mantegna may represent the first artist to paint this condition in a portrait in the 15th century; at least, as far as we have known, since other portraits might be misleading, as also was stated by Conor [2004], particularly those from private collections. However, after seeing this terra-cotta, I strongly consider that the first ‘‘artist’’ to depict this syndrome in human history that has reached to us, was the anonymous person who made this small sculpture of an infant with Down syndrome, in the very beginnings of our Era. This wonderful terra-cotta belongs to the collection of Dr. Celso Rodriguez (1938–2001), a pediatrician who was very active in the beginnings of the Spanish Association of Paleopathology. I am indebted to him for letting me examine the photographs of this first representation of a Down syndrome person of our history. ACKNOWLEDGMENTS I would like to thank Mistress Carmen Mourelo, widow of Dr. ´ Celso Rodrıguez, for her kind collaboration giving me the original photograph of the terra-cotta and their authorization to publish it. REFERENCE
Conor OW. 2004. Further early historical evidence of Down syndrome. Am J Med Genet 126A:220. Fig. 1. Terra-cotta of a Down syndrome infant, from the Tolteca culture of Mexico (year 500 of our Era). [Color figure can be viewed in the online issue, which is available at]

Maria Luisa Martinez-Frias* Director of the Spanish Research Center of Congenital Anomalies (CIAC) Instituto de Salud Carlos III Professor of the Faculty of Medicine University Complutense, Madrid, Spain

*Correspondence to: Dr. Maria Luisa Martinez-Frias, Directora del CIAC, Instituto de Salud Carlos III, C/Sinesio Delgado 6 ´ (Pabellon 6), 28029 Madrid, Spain. E-mail: Received 14 June 2004; Accepted 20 September 2004 DOI 10.1002/ajmg.a.30455

ß 2004 Wiley-Liss, Inc.

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