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New Case of an EEC-Like Syndrome in Twins

Published online by Cambridge University Press:  01 August 2014

M. Schmidt  and
F.M. Salzano
M. Schmidt
Affiliation:
Biology Institute, State University of Rio de Janeiro
F.M. Salzano*
Affiliation:
Genetics Department, Biosciences Institute, Federal University of Rio Grande do Sul, Porto Alegre, Brazil
*
Departamento de Genética, Instituto de Biociências, UFRGS, Caixa Postal 1953, 90001 Porto Alegre, RS, Brazil

Abstract

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A patient wrongly referred as a possible victim of thalidomide showed the three classical cardinal features of the EEC syndrome, plus severe mental retardation, an unusual finding in this condition. His twin brother was similarly affected, and died at four months of age due to complications caused by the malformations. Their normal parents were first cousins. The concordance of the manifestation in the twins and the parents' consanguinity suggest that they had the recessive form of the EEC syndrome.

Keywords

EEC-like syndromeMental retardationConsanguinityTwins

Information

Type
Case Report
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 37 , Issue 3-4 , October 1988 , pp. 347 - 350
Copyright
Copyright © The International Society for Twin Studies 1988

References

REFERENCES

1. Richieri-Costa, A, Vilhena-Moraes, SA, Ferrareto, I, Masiero, D (1986): Ectodermal dysplasia/ectrodactyly in monozygotic female twins. Report of a case - Review and comments on the ectodermal dysplasia/ectrodactyly (cleft lip/palate) syndromes. Rev Bras Genet 9: 349–374.Google Scholar
2. Schmidt, M, Salzano, FM (1980): Dissimilar effects of thalidomide in dizygotic twins. Acta Genet Med Gemellol 29: 295–297.Google Scholar
3. Schmidt, M, Salzano, FM (1983): Clinical studies on teenage Brazilian victims of thalidomide. Brazilian J Med Biol Res 16: 105–109.Google Scholar