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ISSN 2520-9078 (Electronic)

2017, Number 1

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Revista de Ciencias Médicas de la Habana 2017; 24 (1)

Costello syndrome. Case report

Santana HEE, Tamayo CVJ, Wagner VO, Pupo ZO

Language: Spanish
References: 14
Page: 66-73
PDF size: 460.32 Kb.


ABSTRACT

Costello Syndrome is not a very frequent disease, it is characterized by low size, delaying in the development and characterized facies. It is inherited with dominant autosomic pattern, although many sporadic cases have been described, where the mutation was produced in germinal cells appearing again, like a new mutation. A case with delaying in the size and psychomotor development associated to facie tosca was presented. The clinical method was considered important for diagnosing these rare diseases, where the early stimulation and the genetic councelling to relatives was necessary.


REFERENCES

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