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ISSN 2070-8718 (Print)

2010, Number 1

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Rev Cub Gen 2010; 4 (1)

Peter’plus syndrome: a case presentation

Chiong QCM, Rodríguez GJC, Lee YA, Lafontaine TJC

Language: Spanish
References: 12
Page: 49-51
PDF size: 218.63 Kb.


ABSTRACT

Peter’ Plus syndrome is an infrequent genetic disease, characterized by low height, peculiar facial appearance, eye anomalies and mental retardation. The clinical method, combined with the comparative pattern technique just described, was applied to a 10-months white female nursing baby, born of a dizigotic pregnancy allowing diagnosing the disease. A chromosomal study was carried out confirming the possibility of visible chromosomal anomalies employing cytogenetic conventional techniques. It is important to know and identify these clinical symptoms in order to diagnose the disease, starting early rehabilitation and supplying the family with genetic counseling on this little known ailment.


REFERENCES

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